ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082518
Gene: SPG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Ala647Val
CA397433455
NM_003119.4:c.1940C>T