Canonical Allele Identifier: PA2827196100
Gene: SUPV3L1 HGNC NCBI
ClinVar RCV:
RCV004287404
ClinVar Variation:
2496383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310513.1:p.Ser569Leu
CA5530938
NM_001323584.2:c.1706C>T