ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828593663
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492562
ClinVar RCV Id:
RCV002012446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362345.1:p.Arg341Ser
CA189321705
NM_001375416.1:c.1021C>A