Canonical Allele Identifier: PA658677104
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476561
ClinVar RCV Id: RCV000541124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg2814Trp
CA351194393
NM_004369.4:c.8440A>T