ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254770
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9381
ClinVar RCV Id:
RCV000009978
RCV000058806
RCV000420298
RCV001841233
RCV002251424
RCV004017231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ala1924Thr
CA019460
NM_001099404.2:c.5770G>A