ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825941872
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212335
ClinVar RCV:
RCV001729452
RCV003765289
ClinVar Variation:
216840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg1315Leu
CA062580
NM_001160160.2:c.3944G>T