ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829347022
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291526
ClinVar RCV Id:
RCV000317432
RCV000378977
RCV001409133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro674Ser
CA974667
NM_001854.4:c.2020C>T