ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828599572
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1906753
ClinVar RCV Id:
RCV002587134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362350.1:p.Arg341Cys
CA372945588
NM_001375421.1:c.1021C>T