ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345315
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056372
RCV000660828
RCV000723381
RCV001004489
RCV001009364
RCV001027913
RCV003474554
ClinVar Variation:
53575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser945Leu
CA345314
NM_000492.4:c.2834C>T