Canonical Allele Identifier: PA2830144903
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282448
ClinVar RCV Id: RCV000326714 RCV001320936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.His4Leu
CA10604184
NM_057164.5:c.11A>T