ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571557
Gene: CLCN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2745665
ClinVar RCV Id:
RCV003568152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107803.1:p.Ala728Thr
CA394185417
NM_001114331.3:c.2182G>A