ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276979
Gene: ACAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1188886
ClinVar RCV Id:
RCV001548931
RCV001548933
RCV001548932
RCV002253846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037359.3:p.Ser930Ile
CA7719933
NM_013227.4:c.2789G>T