ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922047
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201460
ClinVar RCV Id:
RCV000182984
RCV001064762
RCV003996810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Gly607Asp
CA015379
NM_001354701.2:c.1820G>A