Allele Registry

Canonical Allele Identifier: PA147501

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000079891

RCV000224012

RCV000333824

RCV000341066

RCV000353550

RCV001082806

ClinVar Variation:

93952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ile1015Leu	CA147499 NM_001849.4:c.3043A>C