Canonical Allele Identifier: PA2830148480
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498115
ClinVar RCV Id: RCV000592270 RCV001325100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2325Ser
CA67830560
NM_057166.5:c.6973C>T