ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828112669
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001236055
RCV001705049
RCV001808513
RCV002514067
ClinVar Variation:
207327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Ala808Thr
CA318686
NM_001363765.2:c.2422G>A