Canonical Allele Identifier: PA645434563
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 281964
ClinVar RCV Id: RCV000353251 RCV000653559 RCV001141921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp979Asn
CA10073105
NM_001849.4:c.2935G>A