ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826162319
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291495
ClinVar RCV Id:
RCV000295104
RCV000397331
RCV001770228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177638.1:p.Asn1563Ser
CA973405
NM_001190709.2:c.4688A>G