Canonical Allele Identifier: PA2580306810
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2417385
ClinVar RCV Id: RCV003114854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2954His
CA351191206
NM_004369.4:c.8861C>A