Canonical Allele Identifier: PA2830152463
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 284693
ClinVar RCV Id: RCV000337022 RCV000477924 RCV001265687 RCV001303665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly733Arg
CA10604873
NM_058174.3:c.2197G>A
CA410542038
NM_058174.3:c.2197G>C