ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803762
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502597
ClinVar RCV Id:
RCV000598321
RCV000670047
RCV004525980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu32Met
CA4450635
NM_000492.4:c.94C>A