ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828606570
Gene: MPDZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1488818
ClinVar RCV Id:
RCV001978155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362356.1:p.Gly396Ala
CA372944754
NM_001375427.1:c.1187G>C