ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325618
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007662
RCV000759032
RCV001004265
RCV001826451
RCV003473050
ClinVar Variation:
7240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala561Glu
CA325617
NM_000492.4:c.1682C>A