Canonical Allele Identifier: PA645421480
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356389
ClinVar RCV Id: RCV000280238 RCV000300075 RCV000408334 RCV000408369 RCV000657971 RCV002523565 RCV000609757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Ser1242Leu
CA3750387
NM_080680.3:c.3725C>T