Canonical Allele Identifier: PA222670
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95007
ClinVar RCV Id: RCV000081012 RCV000653661 RCV001141966 RCV001818246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp288Asn
CA222668
NM_004369.4:c.862G>A