ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094917
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007570
RCV000781233
RCV001004460
RCV001528232
RCV001826436
RCV003473023
ClinVar Variation:
7150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val520Phe
CA325545
NM_000492.4:c.1558G>T