ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232910
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1060053
ClinVar RCV Id:
RCV001369430
RCV001836372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val562Ala
CA368977014
NM_000492.4:c.1685T>C