ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2336566030
Gene:
Linked Data - NCBI & NCI
dbSNP:
2109075
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41648308T>A , CM000681.2:g.41648308T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_935972.1:n.170+3194A>T
Search 100 bp 5'
Search 100 bp 3'