ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828599567
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1408857
ClinVar RCV Id:
RCV001910176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362350.1:p.Ala334Thr
CA4987943
NM_001375421.1:c.1000G>A