ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942302
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009970
RCV000009971
RCV000058716
RCV001588806
ClinVar Variation:
9376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg1590Gln
CA018670
NM_001160160.2:c.4769G>A