Canonical Allele Identifier: PA2826590066
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2111725
ClinVar RCV Id: RCV003022693 RCV003308448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Gln433His
CA345386908
NM_001278344.2:c.1299G>C
CA345386909
NM_001278344.2:c.1299G>T