Canonical Allele Identifier: PA2828536566
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_001361619.1:p.Pro558Leu
CA278501
NM_001374690.1:c.1673C>T