ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056899
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000321904
RCV000376489
RCV001569728
RCV002519363
ClinVar Variation:
291542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Glu282Gly
CA975293
NM_080630.4:c.845A>G