ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658814747
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534855
ClinVar RCV Id:
RCV000642552
RCV001508756
RCV002467957
RCV002467956
RCV002530011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Asn1497Ser
CA7534658
NM_025137.4:c.4490A>G