Canonical Allele Identifier: PA215994
Gene: COL6A2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly268Asp
CA215992
NM_001849.4:c.803G>A