ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA155281
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000118405
RCV000233929
RCV000514902
RCV000515991
ClinVar Variation:
130365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Lys1273Arg
CA155280
NM_025137.4:c.3818A>G