ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828119107
Gene: SPAST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Arg449Lys
CA346502220
NM_001363823.2:c.1346G>A