ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825540171
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1466629
ClinVar RCV Id:
RCV001959555
RCV003481226
RCV004044592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Ile649Val
CA1473287
NM_001103.4:c.1945A>G