ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218875
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67715
ClinVar RCV Id:
RCV000058482
RCV001059141
RCV001842313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ser705Phe
CA015866
NM_198056.3:c.2114C>T