ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093738
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7139
ClinVar RCV Id:
RCV000007559
RCV000224060
RCV000763567
RCV001000033
RCV001004246
RCV001826431
RCV003473017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg334Trp
CA340644
NM_000492.4:c.1000C>T