ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829923503
Gene: CLN8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3234119
ClinVar RCV Id:
RCV004545972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Lys253Glu
CA369954261
NM_018941.4:c.757A>G