ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492237
Gene: ACTL6B
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057272.1:p.Arg298Gln
NM_016188.5:c.893G>A