ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143050
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041611
RCV000058525
RCV000157486
RCV000238603
RCV001841599
RCV004018914
ClinVar Variation:
48295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Val924Ile
CA016475
NM_000335.5:c.2770G>A