Canonical Allele Identifier: PA098460
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 202178
ClinVar RCV Id: RCV000184024 RCV000731127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro274Leu
CA275469
NM_001848.3:c.821C>T