ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828215138
Gene: CLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202777
ClinVar RCV:
RCV000187066
RCV000306509
RCV000553078
RCV001111459
RCV003298245
ClinVar Variation:
205141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Arg21Trp
CA313909
NM_001366624.2:c.61C>T