ClinGen Allele Registry
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Canonical Allele Identifier:
PA645412144
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291535
ClinVar RCV Id:
RCV000275597
RCV000330638
RCV000494431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Arg488His
CA974978
NM_080629.3:c.1463G>A