Canonical Allele Identifier: PA2827716242
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448113
ClinVar RCV Id: RCV000516313 RCV001857919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Ala679Val
CA5293943
NM_001353198.2:c.2036C>T