ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326359
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000046192
RCV000587058
RCV001165384
RCV002281546
RCV003473439
ClinVar Variation:
53159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg334Gln
CA326358
NM_000492.4:c.1001G>A