Canonical Allele Identifier: PA645455107
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288410
ClinVar RCV Id: RCV000364187 RCV001855209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Lys1281Glu
CA10606077
NM_004369.4:c.3841A>G