ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573190689
Gene: CLN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001908778
ClinVar Variation:
1402913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273038.1:p.Ser83Leu
CA279784669
NM_001286109.2:c.248C>T