ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240028
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35830
ClinVar RCV Id:
RCV000029484
RCV000587283
RCV001163395
RCV001526855
RCV002256003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val562Ile
CA240027
NM_000492.4:c.1684G>A