Canonical Allele Identifier: PA2825815979
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194962
ClinVar RCV Id: RCV000175455 RCV000648152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Pro631Leu
CA278501
NM_001136113.2:c.1892C>T