ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828316711
Gene: ACAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1188935
ClinVar RCV Id:
RCV001549043
RCV001549204
RCV001549205
RCV002253847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356197.1:p.Ile2079Val
CA7720367
NM_001369268.1:c.6235A>G