Allele Registry

Canonical Allele Identifier: PA221755

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000079755

RCV001197518

RCV003631088

ClinVar Variation:

93818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro502Leu	CA221753 NM_001848.3:c.1505C>T