Canonical Allele Identifier: PA645455084
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290337
ClinVar RCV Id: RCV000318950 RCV000404395 RCV000530876
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala1124Val
CA2189180
NM_004369.4:c.3371C>T