ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307929
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201549
ClinVar RCV Id:
RCV001147409
RCV001148331
RCV001147407
RCV001148332
RCV001250213
RCV001842931
RCV001781541
RCV001147408
RCV001148333
RCV002354484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Val2016Met
CA019615
NM_001099404.2:c.6046G>A