ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826203968
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000598140
RCV001867957
RCV002377233
ClinVar Variation:
499742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Ser1302Asn
CA5265082
NM_001195532.2:c.3905G>A