ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830160122
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000292764
RCV000332746
RCV000338427
RCV000374418
RCV001850898
ClinVar Variation:
356381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Val1565Ile
CA3749945
NM_080681.3:c.4693G>A