ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828119022
Gene: SPAST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Ala393Glu
CA346501376
NM_001363823.2:c.1178C>A