ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232917
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001348749
ClinVar Variation:
1044502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val922Ile
CA368986694
NM_000492.4:c.2764G>A