Canonical Allele Identifier: PA098596
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17164
ClinVar RCV Id: RCV000018704 RCV000149938 RCV000359356 RCV000302217 RCV000993564 RCV000859498 RCV003764600 RCV004532388
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Pro932Leu
CA242938
NM_001849.4:c.2795C>T