ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093747
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7182
ClinVar RCV Id:
RCV000007602
RCV000224726
RCV000508504
RCV001027909
RCV001009366
RCV001004250
RCV003473034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg347His
CA340652
NM_000492.4:c.1040G>A