ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121128
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215223
ClinVar RCV Id:
RCV000197553
RCV001233181
RCV001847891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ser576Trp
CA322015
NM_001363850.1:c.1727C>G