ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828799543
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1478448
ClinVar RCV Id:
RCV001974188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365707.1:p.Arg1992Gln
CA4986007
NM_001378778.1:c.5975G>A