Allele Registry

Canonical Allele Identifier: PA2829875266

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000050015

ClinVar Variation:

56602

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Ser198Arg	CA263975 NM_017739.4:c.594C>G CA340186912 NM_017739.4:c.594C>A CA340186949 NM_017739.4:c.592A>C