ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322016
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197553
RCV001233181
RCV001847891
ClinVar Variation:
215223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Ser576Trp
CA322015
NM_003119.4:c.1727C>G