ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828605162
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002618109
RCV002618110
ClinVar Variation:
1925243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362354.1:p.Val1917Ile
CA4985987
NM_001375425.1:c.5749G>A