Canonical Allele Identifier: PA2830147403
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290521
ClinVar RCV Id: RCV000340601 RCV001403783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser1005Leu
CA2188810
NM_057166.5:c.3014C>T