ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826204019
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636432
RCV000839031
RCV001809709
ClinVar Variation:
530530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Arg1365Trp
CA5265135
NM_001195532.2:c.4093C>T