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: PA094330

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53162

ClinVar RCV Id: RCV000056337 RCV000593715 RCV001004247 RCV001826607 RCV003473440

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ile336Lys	CA345302 NM_000492.4:c.1007T>A