Canonical Allele Identifier: PA891865324
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 591243
ClinVar RCV Id: RCV000722421
ClinVar Variation Id: 1923762
ClinVar RCV Id: RCV002609102

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056968.1:p.Ser135_Ser136del
CA10367347
NM_015884.4:c.402_407del