ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094057
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007601
RCV001009395
RCV001093484
RCV001831545
RCV003473033
ClinVar Variation:
7181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu92Lys
CA325572
NM_000492.4:c.274G>A