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: PA2580120727

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1734257

ClinVar RCV Id: RCV002349058

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Val1240Leu	CA368974399 NM_000492.4:c.3718G>C CA368974400 NM_000492.4:c.3718G>T