ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825940736
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2133204
ClinVar RCV:
RCV003658471
ClinVar Variation:
2084315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ser560Leu
CA352146756
NM_001160160.2:c.1679C>T