Canonical Allele Identifier: PA645400881
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286252
ClinVar RCV Id: RCV000302236 RCV001859644
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly263Asp
CA10605416
NM_001848.3:c.788G>A