ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682586
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
928980
ClinVar RCV Id:
RCV001193704
RCV001828600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu1043Gln
CA164965384
NM_000492.4:c.3128T>A