ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119258
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219608
ClinVar RCV Id:
RCV000205236
RCV000432874
RCV001847924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Gly558Asp
CA349419
NM_001363823.2:c.1673G>A