ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044141
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207344
ClinVar RCV Id:
RCV001040415
RCV001808517
RCV001705052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Ala1824Thr
CA318718
NM_001363759.2:c.5470G>A