ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094027
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577109
RCV000660831
ClinVar Variation:
54006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu193Lys
CA327578
NM_000492.4:c.577G>A