ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944784
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67831
ClinVar RCV Id:
RCV000058608
RCV000221645
RCV001842351
RCV003556151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Leu1229Met
CA017562
NM_001160161.2:c.3685C>A