Canonical Allele Identifier: PA645454616
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335145
ClinVar RCV Id: RCV000387185 RCV000795594 RCV000594149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser154Leu
CA2189862
NM_004369.4:c.461C>T