ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825742097
Gene: ACAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1905752
ClinVar RCV Id:
RCV002588875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001126.3:p.Glu415Lys
CA7719505
NM_001135.4:c.1243G>A