Canonical Allele Identifier: PA645455070
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285464
ClinVar RCV Id: RCV000274489 RCV000653619 RCV003165744 RCV000259898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1069Met
CA2189216
NM_004369.4:c.3205G>A