ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125433
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217004
ClinVar RCV Id:
RCV000195806
RCV001091364
RCV003401083
RCV001847904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Arg529Gln
CA278930
NM_001363875.2:c.1586G>A