Canonical Allele Identifier: PA2825571167
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 438670
ClinVar RCV Id: RCV000505540 RCV001266783 RCV001814174 RCV001857236 RCV002279283 RCV003900059 RCV003988848
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107803.1:p.Arg262Gln
CA7810545
NM_001114331.3:c.785G>A