ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828596045
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
728629
ClinVar RCV Id:
RCV000903143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362347.1:p.Leu351Phe
CA4987930
NM_001375418.1:c.1051C>T