ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825494084
Gene: ACTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093.1:p.Arg803Cys
CA16606576
NM_001102.4:c.2407C>T