Canonical Allele Identifier: PA2827715826
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95469
ClinVar RCV Id: RCV000081495 RCV001328597 RCV000764803 RCV001341723 RCV004542790
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Pro219Leu
CA223005
NM_001353198.2:c.656C>T