ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825132925
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001841166
RCV002356862
RCV002480639
RCV003542334
ClinVar Variation:
928274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Phe2003Ile
CA065172
NM_000335.5:c.6007T>A