ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573098195
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307051
ClinVar RCV Id:
RCV001772509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Arg894His
CA974347
NM_080629.3:c.2681G>A