Canonical Allele Identifier: PA645455383
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335120
ClinVar RCV Id: RCV000381887 RCV000805218 RCV003258771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr1751Met
CA2188712
NM_004369.4:c.5252C>T