ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830122782
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291499
ClinVar RCV Id:
RCV000279813
RCV000338595
RCV001660559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Pro1416Ala
CA973471
NM_080630.4:c.4246C>G