Canonical Allele Identifier: PA242696
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 195970
ClinVar RCV Id: RCV000724744 RCV000794513 RCV003488427
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2250Leu
CA242694
NM_004369.4:c.6749C>T