ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105524
Gene: MPV17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16160
ClinVar RCV Id:
RCV000712314
RCV003466861
RCV002509162
RCV000017543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Arg50Gln
CA341380
NM_002437.5:c.149G>A