ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2492528170
Gene:
Linked Data - NCBI & NCI
dbSNP:
1876040
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.18953470A>T , CM000664.2:g.18953470A>T
GRCh38
NC_000002.11:g.19134748A>T , CM000664.1:g.19134748A>T
GRCh37
NC_000002.10:g.18998229A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939775.1:n.555+9568A>T
Search 100 bp 5'
Search 100 bp 3'