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: PA645402832

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 290847

ClinVar RCV Id: RCV000362181 RCV003298350

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Cys76Ser	CA10606920 NM_000492.4:c.226T>A CA368972216 NM_000492.4:c.227G>C