Canonical Allele Identifier: PA2580411379
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435166
ClinVar RCV Id: RCV003135100

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Ser7Arg
CA340193270
NM_017739.4:c.21C>G
CA340193272
NM_017739.4:c.21C>A
CA340193292
NM_017739.4:c.19A>C