Allele Registry

Canonical Allele Identifier: PA916054471

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

274550

ClinVar RCV:

RCV000343057

RCV001325819

ClinVar Variation:

290313

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Pro568Ser	CA10072121 NM_058175.3:c.1702C>T