Allele Registry

Canonical Allele Identifier: PA916054588

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000176645

RCV001368873

RCV001370221

ClinVar Variation:

195954

1060752

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly700Ser	CA242678 NM_058175.3:c.2098G>A CA2499225995 NM_058175.3:c.2097_2098delinsTA