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: PA2825194356

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231862

ClinVar RCV Id: RCV004518577

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Met837Ile	CA164949878 NM_000492.4:c.2511G>A CA368983855 NM_000492.4:c.2511G>C CA368983856 NM_000492.4:c.2511G>T