Canonical Allele Identifier: PA2573069535
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56602
ClinVar RCV Id: RCV000050015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277059.2:p.Ser55Arg
CA263975
NM_001290130.2:c.165C>G
CA340186912
NM_001290130.2:c.165C>A
CA340186949
NM_001290130.2:c.163A>C