ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828597241
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2180561
ClinVar RCV Id:
RCV002619314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362348.1:p.Thr358Met
CA2580079254
NM_001375419.1:c.1073_1074delinsTG