ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125245
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989116
ClinVar RCV Id:
RCV001391514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Arg391Thr
CA346502037
NM_001363875.2:c.1172G>C