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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503488.1:p.Ile190_Ter191insArgGluArgProArgGlnLeuProProAlaThrGlyAspLeuLeuProLeuGlnArgCysGln
CA5293497
ENST00000677853.1:c.571T>C
CA375308747
ENST00000677853.1:c.571T>A