ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947903
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466527
ClinVar RCV Id:
RCV000556968
RCV002330887
RCV002263778
RCV002467869
RCV002467868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Asp1421Asn
CA7534720
NM_001160227.2:c.4261G>A