ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119184
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5660
ClinVar RCV Id:
RCV000006014
RCV000415256
RCV000523541
RCV001847585
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Arg498Cys
CA253551
NM_001363823.2:c.1492C>T