Canonical Allele Identifier: PA2830148719
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476499
ClinVar RCV Id: RCV000541712 RCV003144370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser148Asn
CA351222204
NM_057167.4:c.443G>A