ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580268597
Gene: MPV17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2179934
ClinVar RCV Id:
RCV002615303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Leu176Pro
CA1575460
NM_002437.5:c.527T>C