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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:
CA595318346
Gene:
Linked Data
dbSNP Id:
rs1307772093
gnomAD v2:
10-96522255-G-GC
gnomAD v3:
10-94762498-G-GC
gnomAD v4:
10-94762498-G-GC
MyVariant Identifiers:
chr10:g.96522255_96522256insC (hg19)
chr10:g.94762498_94762499insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94762499dup , CM000672.2:g.94762499dup
GRCh38
NC_000010.10:g.96522256dup , CM000672.1:g.96522256dup
GRCh37
NC_000010.9:g.96512246dup
NCBI36
NG_008384.2:g.4794dup
NG_008384.3:g.4819dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000464755.1:c.932-12559dup
ENSP00000483243.1:n.932-12559dup
Search 100 bp 5'
Search 100 bp 3'