ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590155
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428050
ClinVar RCV Id:
RCV001964779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265273.1:p.Ile478del
CA1473333
NM_001278344.2:c.1433_1435del