Canonical Allele Identifier: PA2580259235
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp331_Val333del
CA2580098947
NM_001848.3:c.991_999del
CA2695230388
NM_001848.3:c.987_995del