ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827196081
Gene: SUPV3L1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004461154
ClinVar Variation:
3172212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310513.1:p.Ile195Val
CA209214824
NM_001323584.2:c.583A>G