ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573073624
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_001362247.1:p.Tyr930His
CA375058542
NM_001375318.1:c.2788T>C