ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2055226329
Gene:
Linked Data - NCBI & NCI
dbSNP:
1836127
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.93156525G>C , CM000674.2:g.93156525G>C
GRCh38
NC_000012.11:g.93550301G>C , CM000674.1:g.93550301G>C
GRCh37
NC_000012.10:g.92074432G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040096.1:n.427+59057C>G
Search 100 bp 5'
Search 100 bp 3'