ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825662520
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
368485
ClinVar RCV Id:
RCV000349680
RCV003736751
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121370.1:p.Val606Met
CA10413928
NM_001127898.4:c.1816G>A