Canonical Allele Identifier: PA222635
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94954
ClinVar RCV Id: RCV000723513 RCV001055334
ClinVar Variation Id: 937877
ClinVar RCV Id: RCV001206994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Lys2052Asn
CA222633
NM_004369.4:c.6156G>C
CA351217638
NM_004369.4:c.6156G>T