Allele Registry

Canonical Allele Identifier: PA2580259334

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV002627325

RCV003146596

ClinVar Variation:

1933928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg965His	CA10073083 NM_001849.4:c.2894G>A