Canonical Allele Identifier: PA645455492
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288660
ClinVar RCV Id: RCV000356934 RCV003517177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2714Ser
CA2187623
NM_004369.4:c.8140G>T