Canonical Allele Identifier: PA2828538048
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3246
ClinVar RCV Id: RCV000175324 RCV002286391 RCV003764522 RCV003323349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Gln451His
CA116112
NM_001374693.1:c.1353G>C
CA375313581
NM_001374693.1:c.1353G>T