Canonical Allele Identifier: PA916054340
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283998
ClinVar RCV Id: RCV000280808 RCV000821673 RCV004535311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp354Asn
CA10071676
NM_058175.3:c.1060G>A