Canonical Allele Identifier: PA138615
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 46556
ClinVar RCV Id: RCV000039826 RCV000268570 RCV000305029 RCV000319689 RCV000359665 RCV000659336 RCV000709864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Arg539Trp
CA138614
NM_080680.3:c.1615C>T