Canonical Allele Identifier: PA645455517
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288504
ClinVar RCV Id: RCV000726172 RCV000707162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2915Val
CA2187451
NM_004369.4:c.8744C>T