Canonical Allele Identifier: PA2830150406
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499875
ClinVar RCV Id: RCV000598360 RCV000806184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2253Gln
CA2187813
NM_057167.4:c.6758G>A