ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094631
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7119
ClinVar RCV Id:
RCV000007539
RCV001009367
RCV001004269
RCV001831523
RCV002254259
RCV002490333
RCV003473008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro574His
CA325523
NM_000492.4:c.1721C>A