ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828576296
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1167079
ClinVar RCV Id:
RCV001515989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362242.1:p.Arg1808Lys
CA375076167
NM_001375313.1:c.5423G>A