ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825948597
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534836
ClinVar RCV Id:
RCV000642530
RCV001507872
RCV002360574
RCV002467949
RCV002467948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Asn2202Thr
CA7533946
NM_001160227.2:c.6605A>C