ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462769
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000490105
RCV001643206
ClinVar Variation:
427079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Asp411Asn
CA397420893
NM_003119.4:c.1231G>A