ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344373
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
49765
ClinVar RCV:
RCV000034242
RCV000594035
RCV002467533
RCV002467534
RCV002477051
ClinVar Variation:
41341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Val2053Met
CA344372
NM_025137.4:c.6157G>A