Canonical Allele Identifier: PA645455401
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_004360.2:p.Pro1894Ser
CA2188606
NM_004369.4:c.5680C>T