ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326470
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001192400
RCV002390195
RCV002496708
RCV003473453
ClinVar Variation:
53245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser466Leu
CA326469
NM_000492.4:c.1397C>T