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: PA2573170540

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1515640

ClinVar RCV Id: RCV002048570

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Lys335Glu	CA368978742 NM_000492.4:c.1003A>G