ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499279559
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1162923
ClinVar RCV Id:
RCV001507560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Lys414Glu
CA346501506
NM_014946.4:c.1240A>G