Canonical Allele Identifier: PA2830147945
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288872
ClinVar RCV Id: RCV000357364 RCV000536787 RCV000726233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala1650Thr
CA2188088
NM_057166.5:c.4948G>A