Canonical Allele Identifier: PA645455002
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335139
ClinVar RCV Id: RCV000346069 RCV001239780 RCV004021805 RCV003137962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr525Met
CA2189591
NM_004369.4:c.1574C>T