ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA185144
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179791
ClinVar RCV Id:
RCV000156589
RCV000765742
RCV001842493
RCV003546483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala51Val
CA014919
NM_000335.5:c.152C>T