ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830319299
Gene: GLIS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
366958
ClinVar RCV Id:
RCV000362146
RCV001850939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689842.3:p.Ser532Phe
CA4967967
NM_152629.4:c.1595C>T