ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453503
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432019
ClinVar RCV Id:
RCV000498111
RCV001079858
RCV001126869
RCV001126870
RCV001126871
RCV001126872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Val964Ile
CA8709453
NM_000334.4:c.2890G>A