ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944808
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24433
ClinVar RCV:
RCV000009994
RCV000058612
RCV001841240
ClinVar Variation:
9394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Pro1244Leu
CA017599
NM_001160161.2:c.3731C>T