ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108588
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6819
ClinVar RCV Id:
RCV000007221
RCV000198037
RCV001847595
RCV002512867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Gly349Ser
CA253968
NM_003119.4:c.1045G>A