Canonical Allele Identifier: PA127094
Gene: COL11A2 HGNC NCBI
ClinVar RCV:
RCV000018660
ClinVar Variation:
17123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Gly1441Glu
CA127091
NM_080680.3:c.4322G>A