Canonical Allele Identifier: PA263706
Gene: CLN3 HGNC NCBI
ClinVar Allele:
70920
ClinVar RCV:
RCV000049693
ClinVar Variation:
56281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Gly187Ala
CA263703
NM_001042432.2:c.560G>C