ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828594609
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1925243
ClinVar RCV Id:
RCV002618110
RCV002618109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362345.1:p.Val1983Ile
CA4985987
NM_001375416.1:c.5947G>A