ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829667538
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ala247Thr
CA388312697
NM_006493.4:c.739G>A