ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323687
Gene: MPV17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214660
ClinVar RCV Id:
RCV000734836
RCV000855709
RCV003468889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Arg41Trp
CA323686
NM_002437.5:c.121C>T