Canonical Allele Identifier: PA645455395
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285695
ClinVar RCV Id: RCV000360053 RCV001855157 RCV003278739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu1859Lys
CA10605207
NM_004369.4:c.5575G>A