ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181518
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67656
ClinVar RCV Id:
RCV000148863
RCV000154845
RCV000617704
RCV001144225
RCV001144226
RCV001144227
RCV001144228
RCV000987232
RCV001842275
RCV003539777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Glu446Lys
CA014706
NM_001099404.2:c.1336G>A