ClinGen Allele Registry
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Canonical Allele Identifier:
PA265854
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058792
RCV001842388
RCV002477204
RCV003541030
ClinVar Variation:
67998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala185Val
CA019348
NM_000335.5:c.554C>T