Canonical Allele Identifier: PA222605
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94930
ClinVar RCV Id: RCV000080935 RCV003764762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly141Arg
CA222603
NM_004369.4:c.421G>A
CA351227082
NM_004369.4:c.421G>C