Canonical Allele Identifier: PA2825816268
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV003069110
ClinVar Variation:
2154108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Trp69Cys
CA5293322
NM_001136114.2:c.207G>T
CA375307163
NM_001136114.2:c.207G>C