ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828120952
Gene: SPG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Pro350Thr
CA8243924
NM_001363850.1:c.1048C>A