ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573193745
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1677369
ClinVar RCV Id:
RCV002223403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Ile685Asn
CA345387561
NM_001278343.2:c.2054T>A