ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056176
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Thr1488Lys
CA352144349
NM_198056.3:c.4463C>A