Canonical Allele Identifier: PA658817819
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498115
ClinVar RCV Id: RCV000592270 RCV001325100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2932Ser
CA67830560
NM_004369.4:c.8794C>T