ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094072
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056386
RCV000211150
RCV000763160
RCV001004504
RCV001831779
RCV002247437
RCV003474587
ClinVar Variation:
53797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gly1244Glu
CA328120
NM_000492.4:c.3731G>A