ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947468
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400111
ClinVar RCV:
RCV000475662
RCV000518728
RCV001260217
RCV001563519
RCV001848826
ClinVar Variation:
413995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Tyr886His
CA7535167
NM_001160227.2:c.2656T>C