ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218843
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78583
909553
ClinVar RCV:
RCV000058452
RCV001843165
RCV001876102
ClinVar Variation:
67688
923068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Asn592Lys
CA015355
NM_000335.5:c.1776C>A
CA058791
NM_000335.5:c.1776C>G