Allele Registry

Canonical Allele Identifier: PA146750

Gene: MAN2B1 HGNC NCBI

ClinVar Allele:

99125

ClinVar RCV:

RCV000079081

RCV000355741

RCV000675485

ClinVar Variation:

93218

HGVS (amino-acid)	Matching Registered Transcripts
NP_000519.2:p.Thr312Ile	CA146749 NM_000528.4:c.935C>T