ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825492040
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058505
RCV003556149
ClinVar Variation:
67736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Asp84Asn
CA016221
NM_001099405.2:c.250G>A