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: PA2825193073

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231819

ClinVar RCV Id: RCV004518534

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Tyr380Asn	CA368979903 NM_000492.4:c.1138T>A