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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:
CA1458504749
Gene:
Linked Data
dbSNP Id:
rs1720479873
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54228407G>A , CM000666.2:g.54228407G>A
GRCh38
NC_000004.11:g.55094574G>A , CM000666.1:g.55094574G>A
GRCh37
NC_000004.10:g.54789331G>A
NCBI36
NG_009250.1:g.4311G>A , LRG_309:g.4311G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507166.5:c.1018-46518G>A
ENSP00000423325.1:n.1018-46518G>A
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