Canonical Allele Identifier: PA231055
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128822
ClinVar RCV Id: RCV000116801 RCV000550052 RCV000515400 RCV004549582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2670Val
CA231053
NM_004369.4:c.8009C>T