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: PA1139680341

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 961121

ClinVar RCV Id: RCV001234763 RCV001530071 RCV001834032

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Leu88Phe	CA4450676 NM_000492.4:c.264A>C CA368972297 NM_000492.4:c.264A>T