Allele Registry

Canonical Allele Identifier: PA295304

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000525095

ClinVar Variation:

162545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Phe836Leu	CA295302 NM_001849.4:c.2508C>A CA410548172 NM_001849.4:c.2506T>C CA410548177 NM_001849.4:c.2508C>G