Canonical Allele Identifier: PA645401082
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281309
ClinVar RCV Id: RCV000330732 RCV000368419 RCV000821708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu519Lys
CA10070396
NM_001848.3:c.1555G>A