ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408148
Gene: SPG11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Leu520Phe
CA7535527
NM_025137.4:c.1558C>T