ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062791
Gene: SPG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955399.1:p.Ala345Pro
CA397419954
NM_199367.3:c.1033G>C