ClinGen Allele Registry
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Canonical Allele Identifier:
CA770000039
Gene:
Linked Data
dbSNP Id:
rs1281918823
MyVariant Identifiers:
chr2:g.52949546T>A (hg19)
chr2:g.52722408T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.52722408T>A , CM000664.2:g.52722408T>A
GRCh38
NC_000002.11:g.52949546T>A , CM000664.1:g.52949546T>A
GRCh37
NC_000002.10:g.52803050T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.849A>T
Search 100 bp 5'
Search 100 bp 3'