Canonical Allele Identifier: PA2830147690
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289646
ClinVar RCV Id: RCV000315447 RCV000765641 RCV001451134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1335Leu
CA2188573
NM_057166.5:c.4004C>T