ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826203921
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
426676
ClinVar RCV:
RCV000501169
RCV000636397
RCV000656023
RCV001809453
RCV002318608
ClinVar Variation:
433113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Arg1205Trp
CA5265014
NM_001195532.2:c.3613C>T