ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922598
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463317
ClinVar RCV Id:
RCV000825045
RCV003591745
RCV002438346
RCV003654427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala993Thr
CA061107
NM_001354701.2:c.2977G>A