ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121226
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219448
ClinVar RCV Id:
RCV000205117
RCV000413637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Leu695Pro
CA349321
NM_001363850.1:c.2084T>C