Canonical Allele Identifier: PA645401187
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285997
ClinVar RCV Id: RCV000407281 RCV000660511 RCV002521945 RCV002519203 RCV001328889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro716Leu
CA10070780
NM_001848.3:c.2147C>T