ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829348848
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291492
ClinVar RCV Id:
RCV000265566
RCV000361283
RCV002061149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro1668Leu
CA973347
NM_001854.4:c.5003C>T