ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342986
Gene: MPV17
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Ser170Phe
CA342985
NM_002437.5:c.509C>T