ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826619064
Gene: VPS45
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55907
ClinVar RCV Id:
RCV000049321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001266283.1:p.Glu202Lys
CA1073223
NM_001279354.2:c.604G>A