ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139681223
Gene: ACTN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001092308
ClinVar Variation:
872047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123477.1:p.Arg738Gly
CA390181676
NM_001130005.2:c.2212C>G