ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830121700
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2633890
ClinVar RCV Id:
RCV004531656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Pro768Ser
CA341163557
NM_080630.4:c.2302C>T