ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825925140
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004418984
ClinVar Variation:
3124108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139555.1:p.Tyr334Cys
CA407792094
NM_001146083.3:c.1001A>G