ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830158185
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2891781
ClinVar RCV Id:
RCV003725119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Gly1072del
CA884748952
NM_080629.3:c.3215_3217del