ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108578
Gene: SPG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Ala510Val
CA090884
NM_003119.4:c.1529C>T