Canonical Allele Identifier: PA244778
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196948
ClinVar RCV Id: RCV000177839 RCV000334943 RCV000824033 RCV002516756
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Leu941Phe
CA244776
NM_001848.3:c.2821C>T