ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825496502
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000010009
RCV000058706
RCV001258074
RCV003156212
ClinVar Variation:
9406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Asp1577His
CA018558
NM_001099405.2:c.4729G>C