Canonical Allele Identifier: PA2827714756
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000003397
ClinVar Variation:
3241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Leu369del
CA278045
NM_001353196.2:c.1104_1106del