ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096399
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424653
ClinVar RCV Id:
RCV000516040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Leu378Gln
CA346501261
NM_014946.4:c.1133T>A