ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105534
Gene: MPV17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16162
ClinVar RCV Id:
RCV000017545
RCV000264441
RCV003227464
RCV003473105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Arg50Trp
CA341382
NM_002437.5:c.148C>T