Canonical Allele Identifier: PA645401088
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283692
ClinVar RCV Id: RCV000293620 RCV000402786 RCV001563598 RCV003479091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly535Arg
CA10070436
NM_001848.3:c.1603G>C
CA10070437
NM_001848.3:c.1603G>A