ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825538645
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071129
ClinVar RCV Id:
RCV004014631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Glu1072Gly
CA352138993
NM_001099404.2:c.3215A>G