ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094013
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7169
ClinVar RCV Id:
RCV001293471
RCV002247262
RCV002415404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gln359Lys
CA353709
NM_000492.4:c.1075C>A