ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580468002
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717261
ClinVar RCV Id:
RCV002297475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Tyr2156Cys
CA392216250
NM_025137.4:c.6467A>G