ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102163
Gene: CLN6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39558
ClinVar RCV:
RCV000058907
RCV000675107
RCV001787032
ClinVar Variation:
30601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Leu47Phe
CA259852
NM_017882.3:c.139C>T