ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129444
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001254773
RCV004004921
ClinVar Variation:
977183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.His558Tyr
CA72939207
NM_000335.5:c.1672C>T