ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825925117
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3124121
ClinVar RCV Id:
RCV004418997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139555.1:p.Arg239Gln
CA309346271
NM_001146083.3:c.716G>A