ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828121070
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034858
RCV000195683
RCV000270813
RCV000515835
RCV000623796
RCV000626837
RCV000677252
RCV000850200
RCV001003619
RCV002463623
RCV003421943
ClinVar Variation:
42016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ala510Val
CA090884
NM_001363850.1:c.1529C>T