Canonical Allele Identifier: PA2829855070
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127698
ClinVar RCV Id: RCV003035965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056968.1:p.Ser125_Ser136dup
CA2580100457
NM_015884.4:c.366_401dup