Canonical Allele Identifier: PA215995
Gene: COL6A2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly268Asp
CA215992
NM_058174.3:c.803G>A