Canonical Allele Identifier: PA127092
Gene: COL11A2 HGNC NCBI
ClinVar RCV:
RCV000018660
ClinVar Variation:
17123
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Gly1334Glu
CA127091
NM_080679.3:c.4001G>A