Canonical Allele Identifier: PA1139743486
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95468
ClinVar RCV Id: RCV000081494 RCV002513831 RCV003314560 RCV003474683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Pro237Leu
CA223003
NM_001374689.1:c.710C>T