Allele Registry

Canonical Allele Identifier: PA347900

Gene: MMAB HGNC NCBI

ClinVar RCV:

RCV000408901

RCV000589479

ClinVar Variation:

219003

HGVS (amino-acid)	Matching Registered Transcripts
NP_443077.1:p.Arg19Gln	CA347899 NM_052845.4:c.56_57delinsAA CA3054207199 NM_052845.4:c.56_60delinsAAGGT