ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125408
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188083
ClinVar RCV Id:
RCV000167918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Gly513Glu
CA333996
NM_001363875.2:c.1538G>A