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: PA2573060394

Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1202581

ClinVar RCV Id: RCV001837017

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val465Phe	CA369644393 NM_000083.3:c.1393G>T