ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827196133
Gene: SUPV3L1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004287404
ClinVar Variation:
2496383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310514.1:p.Ser579Leu
CA5530938
NM_001323585.2:c.1736C>T