ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826601486
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3236145
ClinVar RCV Id:
RCV004555406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269092.1:p.Ile347Met
CA413185388
NM_001282163.2:c.1041A>G