ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923214
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000208068
RCV001842962
RCV003541646
ClinVar Variation:
222809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val1377Met
CA062884
NM_001354701.2:c.4129G>A