ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119155
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448447
ClinVar RCV Id:
RCV000517007
RCV001216975
RCV002281101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Gly483Arg
CA346502457
NM_001363823.2:c.1447G>C