Canonical Allele Identifier: PA2830147645
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285147
ClinVar RCV Id: RCV000406654 RCV000701359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1287Ser
CA2188606
NM_057166.5:c.3859C>T