ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825924487
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1675309
ClinVar RCV Id:
RCV002211038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139528.1:p.Val251_Leu255del
CA2573156731
NM_001146056.3:c.752_766del