Allele Registry

Canonical Allele Identifier: PA099207

Gene: MBTPS2 HGNC NCBI

ClinVar RCV:

RCV000022848

RCV000254794

ClinVar Variation:

29956

HGVS (amino-acid)	Matching Registered Transcripts
NP_056968.1:p.Asn508Ser	CA128790 NM_015884.4:c.1523A>G