Canonical Allele Identifier: PA658817823
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 502371
ClinVar RCV Id: RCV000598205 RCV000804675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2949Leu
CA2187433
NM_004369.4:c.8846C>T