ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1487319635
Gene:
Linked Data - NCBI & NCI
dbSNP:
17586843
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.116003028T>A , CM000666.2:g.116003028T>A
GRCh38
NC_000004.11:g.116924184T>A , CM000666.1:g.116924184T>A
GRCh37
NC_000004.10:g.117143633T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000508414.5:n.337-80893A>T
Search 100 bp 5'
Search 100 bp 3'