ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093507
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53627
ClinVar RCV Id:
RCV000577175
RCV001004287
RCV001582546
RCV003159093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala1006Glu
CA327013
NM_000492.4:c.3017C>A