ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096134
Gene: SPAST
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055761.2:p.Arg499Cys
NM_014946.4:c.1495C>T