Canonical Allele Identifier: PA246925
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 198337
ClinVar RCV Id: RCV000218581 RCV000320721 RCV000328722 RCV000377623 RCV000381022 RCV000724415 RCV004545755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Arg1551Gln
CA246924
NM_080680.3:c.4652G>A