Canonical Allele Identifier: PA2580184739
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_001265272.1:p.Gln641His
CA345386908
NM_001278343.2:c.1923G>C
CA345386909
NM_001278343.2:c.1923G>T