ClinGen Allele Registry
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Canonical Allele Identifier:
PA645412174
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291519
ClinVar RCV Id:
RCV000291280
RCV000343870
RCV001823132
RCV003228921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Pro1089Thr
CA974092
NM_080629.3:c.3265C>A