ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330243
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67987
ClinVar RCV Id:
RCV000058774
RCV003542281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Leu1785Gln
CA019153
NM_000335.5:c.5354T>A