ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580237421
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_001362342.1:p.Val2049Ile
CA4985987
NM_001375413.1:c.6145G>A