Canonical Allele Identifier: PA2830148131
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94986
ClinVar RCV Id: RCV000080991 RCV000548028 RCV004019560 RCV004549516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser1860Leu
CA148027
NM_057166.5:c.5579C>T