ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573315329
Gene: SPG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955399.1:p.Phe324Ser
CA397419239
NM_199367.3:c.971T>C