ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408154
Gene: SPG11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Pro601Thr
CA7535435
NM_025137.4:c.1801C>A