Allele Registry

Canonical Allele Identifier: PA645434379

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

269967

ClinVar RCV:

RCV000265343

RCV000702321

ClinVar Variation:

285730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly886Ser	CA10072967 NM_001849.4:c.2656G>A