ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923558
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058714
RCV003541167
RCV004019055
ClinVar Variation:
67931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Thr1601Lys
CA018648
NM_001354701.2:c.4802C>A