Canonical Allele Identifier: PA2830152253
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497384
ClinVar RCV Id: RCV000592435 RCV000690561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly588Ser
CA10072170
NM_058174.3:c.1762G>A