Canonical Allele Identifier: PA215989
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56907
ClinVar RCV Id: RCV000050245 RCV001853072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1458Ser
CA215987
NM_057166.5:c.4372G>A