ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2737807487
Gene:
Linked Data
dbSNP Id:
rs2146496804
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43168975C>A , CM000683.2:g.43168975C>A
GRCh38
NG_009823.1:g.4945C>A
Transcript Alleles
HGVS
Amino-acid Change
XR_001755073.1:n.647+2062G>T
Search 100 bp 5'
Search 100 bp 3'