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: PA2580116627

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1744857

ClinVar RCV Id: RCV002335587

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Thr339Ser	CA368978787 NM_000492.4:c.1015A>T CA368978789 NM_000492.4:c.1016C>G