Canonical Allele Identifier: PA658817521
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499309
ClinVar RCV Id: RCV000597773 RCV001206779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp1063Asn
CA2189224
NM_004369.4:c.3187G>A