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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA37437453
Gene: USH2A
HGNC
NCBI
Linked Data
dbSNP Id:
rs111033428
MyVariant Identifiers:
chr1:g.215955529_215955539del (hg19)
chr1:g.215782187_215782197del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215782187_215782197del , CM000663.2:g.215782187_215782197del
GRCh38
NC_000001.10:g.215955529_215955539del , CM000663.1:g.215955529_215955539del
GRCh37
NC_000001.9:g.214022152_214022162del
NCBI36
NG_009497.1:g.646200_646210del
NG_009497.2:g.646252_646262del
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.10586-1_10595del
ENST00000674083.1:c.10586-1_10595del
ENST00000307340.7:c.10586-1_10595del
NM_206933.2:c.10586-1_10595del
NM_206933.3:c.10586-1_10595del
NM_206933.4:c.10586-1_10595del
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