Canonical Allele Identifier: PA658677004
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476546
ClinVar RCV Id: RCV000557822 RCV000598340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2077Asp
CA351216671
NM_004369.4:c.6230G>A