Canonical Allele Identifier: PA658810691
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500308
ClinVar RCV Id: RCV000598521 RCV001070212 RCV001141144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp918Asn
CA10071022
NM_001848.3:c.2752G>A