ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062741
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424654
ClinVar RCV Id:
RCV000515979
RCV000518245
RCV003507282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955399.1:p.Glu126Gln
CA286523796
NM_199367.3:c.376G>C