Canonical Allele Identifier: PA645455459
Gene: COL6A3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg2422Gly
CA10606750
NM_004369.4:c.7264C>G