ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1939981839
Gene:
Linked Data - NCBI & NCI
dbSNP:
1397615
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119206827T>A , CM000672.2:g.119206827T>A
GRCh38
NC_000010.10:g.120966339T>A , CM000672.1:g.120966339T>A
GRCh37
NC_000010.9:g.120956329T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011540456.1:c.521A>T
XP_011538758.1:p.Gln174Leu
Search 100 bp 5'
Search 100 bp 3'