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: PA1139683388

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 861818

ClinVar RCV Id: RCV001068414 RCV003230633

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Gly1287Arg	CA368975566 NM_000492.4:c.3859G>A CA368975569 NM_000492.4:c.3859G>C