ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922498
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000041611
RCV000058525
RCV000157486
RCV000238603
RCV001841599
RCV004018914
ClinVar Variation:
48295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val924Ile
CA016475
NM_001354701.2:c.2770G>A