Allele Registry

Canonical Allele Identifier: PA645434206

Gene: MBTPS2 HGNC NCBI

ClinVar RCV:

RCV000489505

ClinVar Variation:

427134

HGVS (amino-acid)	Matching Registered Transcripts
NP_056968.1:p.Phe221Ile	CA412563179 NM_015884.4:c.661T>A