Canonical Allele Identifier: PA2830150883
Gene: COL6A3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2876Leu
CA2187317
NM_057167.4:c.8627C>T