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: PA326941

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53577

ClinVar RCV Id: RCV000577619

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.His949Arg	CA326940 NM_000492.4:c.2846A>G