Canonical Allele Identifier: PA2825815388
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286908
ClinVar RCV Id: RCV000712829 RCV000764805 RCV001041917 RCV003454804 RCV004021212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ser283Arg
CA5293451
NM_001136113.2:c.847A>C
CA375307957
NM_001136113.2:c.849C>A
CA375307958
NM_001136113.2:c.849C>G