ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825052731
Gene: CLN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000077.1:p.Ser171Phe
CA395345652
NM_000086.2:c.512C>T