ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139761357
Gene: SPG11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Leu1625Phe
CA7534565
NM_025137.4:c.4873C>T