Canonical Allele Identifier: PA257726
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17159
ClinVar RCV Id: RCV000018699 RCV000725485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp621Asn
CA257724
NM_058174.3:c.1861G>A