ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825948340
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188231
ClinVar RCV Id:
RCV000168174
RCV000194672
RCV000512885
RCV001847791
RCV003917574
RCV002362861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Asn1962Ser
CA208997
NM_001160227.2:c.5885A>G