ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313961
Gene: CLN6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187093
RCV000666497
RCV001228807
RCV002517850
ClinVar Variation:
205165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Glu102Lys
CA313960
NM_017882.3:c.304G>A