ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325353
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215194
ClinVar RCV Id:
RCV000515879
RCV000487696
RCV000640979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Ser645Thr
CA325352
NM_003119.4:c.1933T>A