ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325719
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35894
ClinVar RCV Id:
RCV000029549
RCV000590210
RCV001165382
RCV001526859
RCV001801915
RCV001588829
RCV003473147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu320Val
CA325718
NM_000492.4:c.958T>G