ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761046
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862012
ClinVar RCV Id:
RCV001068643
RCV004546598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ala1237Val
CA7534861
NM_025137.4:c.3710C>T