ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827193
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551100
ClinVar RCV Id:
RCV000666068
RCV003987653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu188Pro
CA4450756
NM_000492.4:c.563T>C