ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590161
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785131
ClinVar RCV Id:
RCV002421880
RCV003098584
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265273.1:p.Ile478Val
CA39741779
NM_001278344.2:c.1432A>G