ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922523
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003772766
ClinVar Variation:
1403991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ser941Ile
CA2573136282
NM_001354701.2:c.2821_2822delinsAT