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: PA327679

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 54077

ClinVar RCV Id: RCV000577272

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Glu292Lys	CA327678 NM_000492.4:c.874G>A