ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891849231
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000685057
RCV000762478
RCV001830480
ClinVar Variation:
565487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp924His
CA368986725
NM_000492.4:c.2770G>C