ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1309298956
Gene:
Linked Data - NCBI & NCI
dbSNP:
7566934
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175790010A>T , CM000664.2:g.175790010A>T
GRCh38
NC_000002.11:g.176654738A>T , CM000664.1:g.176654738A>T
GRCh37
NC_000002.10:g.176362984A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739794.1:n.378-4234T>A
Search 100 bp 5'
Search 100 bp 3'