ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830440836
Gene: SPAST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Ser330Phe
CA346499847
NM_199436.2:c.989C>T