ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828798583
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1468379
ClinVar RCV Id:
RCV001993653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365707.1:p.Thr345Ala
CA4987936
NM_001378778.1:c.1033A>G