ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828121186
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220101
ClinVar RCV Id:
RCV000205405
RCV000585273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Asp650Asn
CA349575
NM_001363850.1:c.1948G>A