ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199815
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67698
ClinVar RCV Id:
RCV000058462
RCV000171572
RCV001842303
RCV003764734
RCV003298119
RCV004528264
ClinVar Variation Id:
67699
ClinVar RCV Id:
RCV000058463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Gly639Arg
CA015554
NM_001099404.2:c.1915G>A
CA015563
NM_001099404.2:c.1915G>C