ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098348
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2582799
ClinVar RCV Id:
RCV003333913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Asp181His
CA345148324
NM_001100.4:c.541G>C