Canonical Allele Identifier: PA645454720
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288401
ClinVar RCV Id: RCV000327015 RCV000349130 RCV003517176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro403Leu
CA2189684
NM_004369.4:c.1208C>T