ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826203732
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425464
ClinVar RCV Id:
RCV000488052
RCV000703342
RCV001809443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Thr916Ala
CA16621875
NM_001195532.2:c.2746A>G