Canonical Allele Identifier: PA1139721188
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933353
ClinVar RCV Id: RCV001201550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Phe501Leu
CA340173349
NM_017739.4:c.1503T>G
CA340173357
NM_017739.4:c.1503T>A
CA340173388
NM_017739.4:c.1501T>C