Canonical Allele Identifier: PA148029
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94986

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser2467Leu
CA148027
NM_004369.4:c.7400C>T