ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825943812
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Ala572Ser
CA015256
NM_001160161.2:c.1714G>T