ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923283
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058661
RCV000246368
RCV003556154
ClinVar Variation:
67881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Glu1422Gln
CA018141
NM_001354701.2:c.4264G>C