ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236927
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806674
ClinVar RCV Id:
RCV002474103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Arg1811Gln
CA375075956
NM_001375318.1:c.5432G>A