ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825689757
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307949
ClinVar RCV Id:
RCV001772804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Tyr918His
CA375058542
NM_001130438.3:c.2752T>C