ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825925120
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3036984
ClinVar RCV Id:
RCV003913959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139555.1:p.Asp242Asn
CA309346264
NM_001146083.3:c.724G>A