ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830130855
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356381
ClinVar RCV Id:
RCV000292764
RCV000332746
RCV000374418
RCV000338427
RCV001850898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Val1544Ile
CA3749945
NM_080679.3:c.4630G>A