ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236943
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1934475
ClinVar RCV Id:
RCV002638733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Glu1871Ala
CA375077337
NM_001375318.1:c.5612A>C