Allele Registry

Canonical Allele Identifier: PA233815

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

177038

ClinVar RCV:

RCV000153083

RCV000557300

ClinVar Variation:

166931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Asp446His	CA233813 NM_001849.4:c.1336G>C