Canonical Allele Identifier: PA645455498
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285058
ClinVar RCV Id: RCV000267267 RCV000287956 RCV000701627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2748Leu
CA2187592
NM_004369.4:c.8243C>T