ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098345
Gene: CLN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
70935
ClinVar RCV:
RCV000049708
RCV001378302
ClinVar Variation:
56296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000077.1:p.Val330Phe
CA263744
NM_000086.2:c.988G>T