ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825925138
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2532108
ClinVar RCV Id:
RCV003280893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139555.1:p.Arg332His
CA309345236
NM_001146083.3:c.995G>A