ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342979
Gene: MPV17
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002428.1:p.Leu91del
CA342978
NM_002437.5:c.271_273del