ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826204323
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001040415
RCV001705052
RCV001808517
ClinVar Variation:
207344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Ala1799Thr
CA318718
NM_001195532.2:c.5395G>A