Allele Registry

Canonical Allele Identifier: PA2573093104

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000648205

RCV001835049

ClinVar Variation:

538746

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Arg367Cys	CA833501 NM_017739.4:c.1099C>T