ClinGen Allele Registry
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Canonical Allele Identifier:
PA201911
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Leu1307Phe
CA017626
NM_000335.5:c.3919C>T
CA085417
NM_000335.5:c.[3919C>T;694G>A]