ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404385
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287205
ClinVar RCV Id:
RCV000378943
RCV001273210
RCV001175035
RCV002487246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu681Val
CA4451133
NM_000492.4:c.2042A>T