Canonical Allele Identifier: PA2830145969
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3002447
ClinVar RCV Id: RCV003865574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Lys379Asn
CA351217053
NM_057165.5:c.1137G>T
CA351217055
NM_057165.5:c.1137G>C