ClinGen Allele Registry
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Canonical Allele Identifier:
CA682822714
Gene:
Linked Data
dbSNP Id:
rs1333700875
MyVariant Identifiers:
chr12:g.102895350G>C (hg19)
chr12:g.102501572G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501572G>C , CM000674.2:g.102501572G>C
GRCh38
NC_000012.11:g.102895350G>C , CM000674.1:g.102895350G>C
GRCh37
NC_000012.10:g.101419480G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17684G>C
Search 100 bp 5'
Search 100 bp 3'