Allele Registry

Canonical Allele Identifier: PA2826776494

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV001847572

ClinVar Variation:

3990

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277059.2:p.Pro350Arg	CA116544 NM_001290130.2:c.1049C>G