Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2741809908

Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2943628

ClinVar RCV Id: RCV003803186

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Lys467Arg	CA4537339 NM_000083.3:c.1400A>G