ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830121694
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1379188
ClinVar RCV Id:
RCV001883642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg763Trp
CA27703276
NM_080630.4:c.2287C>T