Canonical Allele Identifier: PA2827715624
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365284
ClinVar RCV Id: RCV000401304 RCV000648151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.His657Gln
CA5293927
NM_001353197.2:c.1971C>A
CA375315134
NM_001353197.2:c.1971C>G