ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942567
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67987
ClinVar RCV Id:
RCV000058774
RCV003542281
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Leu1753Gln
CA019153
NM_001160160.2:c.5258T>A