Canonical Allele Identifier: PA2573265578
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510358
ClinVar RCV Id: RCV002011706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056968.1:p.Phe92Leu
CA327502253
NM_015884.4:c.274T>C
CA412561809
NM_015884.4:c.276T>A
CA412561810
NM_015884.4:c.276T>G