ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826590610
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463208
ClinVar RCV Id:
RCV000534650
RCV001563231
RCV002431587
RCV001099123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265273.1:p.Asp685Asn
CA1473513
NM_001278344.2:c.2053G>A