ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580288457
Gene: SUPV3L1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004287404
ClinVar Variation:
2496383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003162.2:p.Ser700Leu
CA5530938
NM_003171.5:c.2099C>T