ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944568
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201494
ClinVar RCV Id:
RCV000183035
RCV000987209
RCV001280587
RCV001842915
RCV002453660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Ser1081Ile
CA017130
NM_001160161.2:c.3242G>T