Canonical Allele Identifier: PA645401257
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287792
ClinVar RCV Id: RCV000542618 RCV003258730 RCV000278318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val871Met
CA10070980
NM_001848.3:c.2611G>A