Canonical Allele Identifier: PA645455502
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288385
ClinVar RCV Id: RCV000330793 RCV000820442 RCV000735335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2787Thr
CA2187571
NM_004369.4:c.8359G>A