ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825494617
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058522
RCV000617872
RCV001588893
ClinVar Variation:
67753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ser910Leu
CA016445
NM_001099405.2:c.2729C>T