ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330277
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68013
ClinVar RCV Id:
RCV000058809
RCV001545225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala1948Ser
CA019500
NM_000335.5:c.5842G>T