ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330249
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67989
ClinVar RCV Id:
RCV000058776
RCV003542282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Asp1789Gly
CA019174
NM_000335.5:c.5366A>G