Canonical Allele Identifier: PA915973508
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ile1015_Arg1016delinsAsnHis
CA915952725
NM_001849.4:c.3044_3047delinsACCA