ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA787163325
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr4:g.13100727G>C
GRCh37
chr4:g.13102351G>C
Linked Data - NCBI & NCI
dbSNP:
13122273
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.13100727G>C , CM000666.2:g.13100727G>C
GRCh38
NC_000004.11:g.13102351G>C , CM000666.1:g.13102351G>C
GRCh37
NC_000004.10:g.12711449G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_925410.1:n.456+45805C>G
Search 100 bp 5'
Search 100 bp 3'