ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1338060477
Gene:
Linked Data - NCBI & NCI
dbSNP:
4663302
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238295120T>A , CM000664.2:g.238295120T>A
GRCh38
NC_000002.11:g.239203761T>A , CM000664.1:g.239203761T>A
GRCh37
NC_000002.10:g.238868500T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959458.1:n.103-3257T>A
Search 100 bp 5'
Search 100 bp 3'