ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139728732
Gene: CLN6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001238918
RCV001788430
ClinVar Variation:
964655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Glu72Lys
CA7630662
NM_017882.3:c.214G>A