Canonical Allele Identifier: PA645400609
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284142
ClinVar RCV Id: RCV000327710 RCV000559973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala119Val
CA10069545
NM_001848.3:c.356C>T