ClinGen Allele Registry
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Canonical Allele Identifier:
PA264187
Gene: CLN8
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_061764.2:p.Trp213del
NM_018941.4:c.637_639del
NM_018941.4:c.[637_639del;642G>A]
NM_018941.4:c.[637_639del;642G>C]
NM_018941.4:c.[637_639del;642G=]
NM_018941.4:c.[637_639del;642G>T]