ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953636
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517885
RCV000638255
RCV003322591
RCV003335049
RCV003338385
ClinVar Variation:
21037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Arg338Gln
CA341533
NM_000083.3:c.1013G>A