ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386833
Gene: HPS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343713
ClinVar RCV Id:
RCV000316729
RCV000931988
RCV001275850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115759.2:p.Arg898Cys
CA2660434
NM_032383.5:c.2692C>T