ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123856
Gene: ACAN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001126.3:p.Asp2343Asn
NM_001135.4:c.7027G>A