Allele Registry

Canonical Allele Identifier: PA222649

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000080975

RCV000525553

ClinVar Variation:

94970

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr229Met	CA222647 NM_004369.4:c.686C>T