Canonical Allele Identifier: PA2830150304
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166938
ClinVar RCV Id: RCV000190770 RCV000250883 RCV000344093 RCV000525963 RCV001706016 RCV004551318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2130Leu
CA204818
NM_057167.4:c.6389C>T