Canonical Allele Identifier: PA244846
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 196982
ClinVar RCV Id: RCV000177882 RCV000690650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2481Ala
CA244844
NM_004369.4:c.7441A>G