Canonical Allele Identifier: PA658677075
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 452370
ClinVar RCV Id: RCV000732252 RCV001078607 RCV002525235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp2615Asn
CA2187682
NM_004369.4:c.7843G>A