Allele Registry

Canonical Allele Identifier: PA645434582

Gene: COL6A2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

346863

1419071

ClinVar RCV:

RCV000278533

RCV000389290

RCV001343854

RCV001944416

RCV003137965

ClinVar Variation:

340386

1433398

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg993His	CA10073123 NM_001849.4:c.2978G>A CA2573157660 NM_001849.4:c.2978_2979delinsAT