ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667488
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463206
ClinVar RCV Id:
RCV000544707
RCV002483403
RCV004023901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Gln858Pro
CA1473493
NM_001103.4:c.2573A>C