Canonical Allele Identifier: PA2828535808
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000003397
ClinVar Variation:
3241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Leu395del
CA278045
NM_001374689.1:c.1182_1184del