ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327590
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577325
RCV001831799
ClinVar Variation:
54019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.His199Arg
CA327589
NM_000492.4:c.596A>G