Canonical Allele Identifier: PA2573220462
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.His1002Gln
CA410541812
NM_001848.3:c.3006C>A
CA410541814
NM_001848.3:c.3006C>G