ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125211
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
586656
ClinVar RCV Id:
RCV000713460
RCV001209308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Ala375Val
CA346501472
NM_001363875.2:c.1124C>T