ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658814805
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_079413.3:p.Asn2315Thr
CA7533946
NM_025137.4:c.6944A>C