ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826203996
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000870021
RCV001705533
RCV002323568
ClinVar Variation:
365166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Arg1329Trp
CA5265095
NM_001195532.2:c.3985C>T