Canonical Allele Identifier: PA2830145697
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197235
ClinVar RCV Id: RCV000178213 RCV000355357 RCV001088802 RCV000981752 RCV002516770 RCV004553004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala53Thr
CA202762
NM_057165.5:c.157G>A