Canonical Allele Identifier: PA2825815264
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV003069110
ClinVar Variation:
2154108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Trp186Cys
CA5293322
NM_001136113.2:c.558G>T
CA375307163
NM_001136113.2:c.558G>C