Canonical Allele Identifier: PA2829532407
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1057Arg
CA2189227
NM_004369.4:c.3171C>A
CA351205365
NM_004369.4:c.3171C>G
CA351205382
NM_004369.4:c.3169A>C