Canonical Allele Identifier: PA2830148462
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166936
ClinVar RCV Id: RCV000153088 RCV000347216 RCV000560301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2305Leu
CA179921
NM_057166.5:c.6914C>T