Canonical Allele Identifier: PA2580306395
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1964Ser
CA2188543
NM_004369.4:c.5892A>T
CA351219679
NM_004369.4:c.5892A>C