ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094850
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000046434
RCV000780130
RCV001004268
RCV001269564
RCV001826622
RCV003473464
ClinVar Variation:
53352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Tyr569Asp
CA326624
NM_000492.4:c.1705T>G