Allele Registry

Canonical Allele Identifier: PA2830145655

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000326714

RCV001320936

ClinVar Variation:

282448

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.His4Leu	CA10604184 NM_057165.5:c.11A>T