ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA303632
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181017
RCV002245983
RCV003996591
ClinVar Variation:
199668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Asp83Asn
CA006882
NM_001613.4:c.247G>A