Canonical Allele Identifier: PA2830152461
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195956
ClinVar RCV Id: RCV000176647 RCV000990370 RCV003441146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr731Met
CA242680
NM_058174.3:c.2192C>T