ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580184736
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2116709
ClinVar RCV Id:
RCV003035143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Arg640Leu
CA345386896
NM_001278343.2:c.1919G>T