ClinGen Allele Registry
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Canonical Allele Identifier:
PA340629
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
22145
ClinVar RCV:
RCV000007525
RCV000224705
RCV000780118
RCV001004458
RCV001826426
RCV002496293
RCV003472998
ClinVar Variation:
7106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile507del
CA340628
NM_000492.4:c.1519_1521del