ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104279
Gene: CLN8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000050125
RCV001753470
RCV003387747
ClinVar Variation:
56712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Thr170Met
CA264177
NM_018941.4:c.509C>T