Allele Registry

Canonical Allele Identifier: PA1139751358

Gene: MMAB HGNC NCBI

ClinVar Variation Id: 970998

ClinVar RCV Id: RCV001246675

ClinVar Variation Id: 1469784

ClinVar RCV Id: RCV001995048

HGVS (amino-acid)	Matching Registered Transcripts
NP_443077.1:p.Phe83Leu	CA6779000 NM_052845.4:c.247T>C CA386639571 NM_052845.4:c.249T>G CA386639572 NM_052845.4:c.249T>A