Canonical Allele Identifier: PA099223
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11403
ClinVar RCV Id: RCV000012156

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056968.1:p.Met87Ile
CA121440
NM_015884.4:c.261G>A
CA412561773
NM_015884.4:c.261G>C
CA412561774
NM_015884.4:c.261G>T