Canonical Allele Identifier: PA2830150789
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95012
ClinVar RCV Id: RCV000081017 RCV000264490 RCV000710916 RCV001517165
ClinVar Variation Id: 597563
ClinVar RCV Id: RCV000733728 RCV003631159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2754del
CA148080
NM_057167.4:c.8259_8261del
CA2187425
NM_057167.4:c.8247_8249del