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: PA915953733

Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359110

ClinVar RCV Id: RCV000331292 RCV001057136

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Met466Leu	CA4537338 NM_000083.3:c.1396A>C CA369644405 NM_000083.3:c.1396A>T