ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130975
Gene: ACTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001123476.1:p.Glu225Lys
NM_001130004.2:c.673G>A