ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828119017
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488605
ClinVar RCV Id:
RCV000578366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Met389Lys
CA346501338
NM_001363823.2:c.1166T>A