ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828596035
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2338204
ClinVar RCV Id:
RCV002944592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362347.1:p.Arg341Leu
CA372945587
NM_001375418.1:c.1022G>T