Canonical Allele Identifier: PA645455482
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285313
ClinVar RCV Id: RCV000333005 RCV001087869 RCV001141186 RCV004547695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp2617Asn
CA2187679
NM_004369.4:c.7849G>A