ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573211996
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001974188
ClinVar Variation:
1478448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362342.1:p.Arg2025Gln
CA4986007
NM_001375413.1:c.6074G>A