ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1179789239
Gene:
Linked Data - NCBI & NCI
dbSNP:
11163585
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.82846152C>A , CM000663.2:g.82846152C>A
GRCh38
NC_000001.10:g.83311835C>A , CM000663.1:g.83311835C>A
GRCh37
NC_000001.9:g.83084423C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947534.1:n.67+7426G>T
Search 100 bp 5'
Search 100 bp 3'