ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827923783
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67974
ClinVar RCV Id:
RCV000058760
RCV000183112
RCV001787862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val1744Met
CA019062
NM_001354701.2:c.5230G>A