ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828121066
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000118409
RCV000576853
RCV001705868
RCV001847729
ClinVar Variation:
130369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Thr503Ala
CA155287
NM_001363850.1:c.1507A>G