ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580305680
Gene: CLCN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2144969
ClinVar RCV Id:
RCV003064791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004357.3:p.Pro380Leu
CA2734223
NM_004366.6:c.1139C>T