ClinGen Allele Registry
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Canonical Allele Identifier:
CA242665994
Gene:
Linked Data
dbSNP Id:
rs748679587
MyVariant Identifiers:
chr12:g.102895289G>A (hg19)
chr12:g.102501511G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501511G>A , CM000674.2:g.102501511G>A
GRCh38
NC_000012.11:g.102895289G>A , CM000674.1:g.102895289G>A
GRCh37
NC_000012.10:g.101419419G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17623G>A
Search 100 bp 5'
Search 100 bp 3'