ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829347833
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291515
ClinVar RCV Id:
RCV000348216
RCV000406086
RCV001590910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Val1158Ala
CA974003
NM_001854.4:c.3473T>C