Canonical Allele Identifier: PA2830150548
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283059
ClinVar RCV Id: RCV000313443 RCV001078995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Met2445Ile
CA2187653
NM_057167.4:c.7335G>A
CA351197120
NM_057167.4:c.7335G>T
CA351197121
NM_057167.4:c.7335G>C