ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976547
Gene: CLN5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006484.2:p.Asn143Ser
NM_006493.4:c.428A>G