Allele Registry

Canonical Allele Identifier: PA2741888989

Gene: COL6A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Trp16Arg	CA10069427 NM_001848.3:c.46T>C CA410513891 NM_001848.3:c.46T>A