Canonical Allele Identifier: PA2827717148
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3246
ClinVar RCV Id: RCV000175324 RCV002286391 RCV003764522 RCV003323349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Gln416His
CA116112
NM_001353200.2:c.1248G>C
CA375313581
NM_001353200.2:c.1248G>T