ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327377
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577004
RCV001000929
RCV001831788
RCV002477159
ClinVar Variation:
53871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu1335Phe
CA327376
NM_000492.4:c.4003C>T