ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826204661
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642556
ClinVar RCV Id:
RCV000796040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Ala2251Thr
CA5265919
NM_001195532.2:c.6751G>A