ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645412219
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000319120
RCV000366831
RCV001579794
ClinVar Variation:
291498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Ile1555Leu
CA973450
NM_080629.3:c.4663A>C