Canonical Allele Identifier: PA1139712568
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857240
ClinVar RCV Id: RCV001062877 RCV002555815 RCV003145321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg647Gln
CA10070658
NM_001848.3:c.1940G>A