Canonical Allele Identifier: PA658677015
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451229
ClinVar RCV Id: RCV000812792 RCV000728295 RCV004553145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val2151Leu
CA2188286
NM_004369.4:c.6451G>C