ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327626
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54041
ClinVar RCV Id:
RCV000047235
RCV000732693
RCV000780160
RCV001004237
RCV002228163
RCV001009386
RCV002477162
RCV003474615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val232Asp
CA327625
NM_000492.4:c.695T>A