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: PA2825192400

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231890

ClinVar RCV Id: RCV004518605

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ser118Phe	CA368974463 NM_000492.4:c.353C>T