ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254111
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7131
ClinVar RCV Id:
RCV000007551
RCV000245320
RCV000759754
RCV001282755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile506Val
CA254110
NM_000492.4:c.1516A>G