Canonical Allele Identifier: PA916054060
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gln89His
CA410520503
NM_058175.3:c.267G>C
CA410520504
NM_058175.3:c.267G>T