ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825945475
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67962
ClinVar RCV Id:
RCV000058748
RCV001529380
RCV001842379
RCV004019059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Pro1671Leu
CA018953
NM_001160161.2:c.5012C>T