ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953932
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
444077
ClinVar RCV:
RCV000711231
RCV000798907
RCV001161762
RCV003883154
ClinVar Variation:
449671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Glu955Val
CA4537805
NM_000083.3:c.2864A>T