Canonical Allele Identifier: PA2830148551
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500167
ClinVar RCV Id: RCV000593008 RCV001860189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2408Ser
CA2187374
NM_057166.5:c.7222C>T