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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:
CA595199227
Gene:
Linked Data
dbSNP Id:
rs1486412685
gnomAD v2:
10-103510442-A-AT
gnomAD v3:
10-101750685-A-AT
gnomAD v4:
10-101750685-A-AT
MyVariant Identifiers:
chr10:g.103510442_103510443insT (hg19)
chr10:g.101750685_101750686insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.101750690dup , CM000672.2:g.101750690dup
GRCh38
NC_000010.10:g.103510447dup , CM000672.1:g.103510447dup
GRCh37
NC_000010.9:g.103500437dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946255.1:n.217-6469dup
XR_946255.2:n.217-6469dup
Search 100 bp 5'
Search 100 bp 3'