Canonical Allele Identifier: PA2830149791
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714752
ClinVar RCV Id: RCV002299120
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro1538Leu
CA351187912
NM_057167.4:c.4613C>T