ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344321
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
49717
ClinVar RCV:
RCV000034194
ClinVar Variation:
41293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ile870Val
CA344320
NM_025137.4:c.2608A>G