Allele Registry

Canonical Allele Identifier: PA645434360

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000278725

ClinVar Variation:

289585

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg876Cys	CA10072955 NM_001849.4:c.2626C>T