ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093651
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219441
RCV000507471
RCV000660792
RCV000757802
RCV001009384
RCV001731338
RCV002221194
RCV002228159
RCV003474570
ClinVar Variation:
53685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg1070Trp
CA327099
NM_000492.4:c.3208C>T