ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094670
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
22231
ClinVar RCV:
RCV000007613
RCV001787320
RCV002247264
ClinVar Variation:
7192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser1255Pro
CA325580
NM_000492.4:c.3763T>C