ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891848921
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
561228
ClinVar RCV:
RCV000706499
ClinVar Variation:
582431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro205Thr
CA368976821
NM_000492.4:c.613C>A