ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658704442
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000588431
RCV001272365
ClinVar Variation:
495935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala1256Val
CA4451543
NM_000492.4:c.3767C>T