Canonical Allele Identifier: PA233837
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166943
ClinVar RCV Id: RCV000528795 RCV000487673 RCV001141518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1504Trp
CA233835
NM_004369.4:c.4510C>T