Canonical Allele Identifier: PA916015469
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Phe597Leu
CA2189556
NM_004369.4:c.1791C>A
CA351216814
NM_004369.4:c.1791C>G
CA351216827
NM_004369.4:c.1789T>C