ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827057927
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629459
ClinVar RCV Id:
RCV000774166
RCV002534122
RCV003458515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Glu59Lys
CA377513465
NM_001320855.1:c.175G>A