ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922779
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058562
RCV000148851
RCV000183030
RCV000621290
RCV001842332
RCV002477200
ClinVar Variation:
67789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala1099Val
CA017023
NM_001354701.2:c.3296C>T