ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112539
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_009190.2:p.Glu238Lys
CA1073223
NM_007259.5:c.712G>A