Canonical Allele Identifier: PA2827716170
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_001340127.2:p.Pro599Leu
CA278501
NM_001353198.2:c.1796C>T