Allele Registry

Canonical Allele Identifier: PA2573093165

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV001245091

RCV001835222

ClinVar Variation:

969691

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Met623Leu	CA340170774 NM_017739.4:c.1867A>T CA340170778 NM_017739.4:c.1867A>C