Canonical Allele Identifier: PA2830150434
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289363
ClinVar RCV Id: RCV000321712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val2288Leu
CA10606424
NM_057167.4:c.6862G>T
CA351202707
NM_057167.4:c.6862G>C