ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828120708
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190417
ClinVar RCV:
RCV000173302
RCV001852108
RCV003416067
ClinVar Variation:
193253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Met1Val