Canonical Allele Identifier: PA2830147167
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gln610His
CA2189125
NM_057166.5:c.1830G>T
CA351201452
NM_057166.5:c.1830G>C