Allele Registry

Canonical Allele Identifier: PA2829875297

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000050016

RCV001528958

ClinVar Variation:

56603

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Trp210Cys	CA263978 NM_017739.4:c.630G>T CA340186594 NM_017739.4:c.630G>C