ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA265383
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67844
ClinVar RCV Id:
RCV000058623
RCV000183056
RCV001255563
RCV002371902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Pro1331Leu
CA017721
NM_000335.5:c.3992C>T