ClinGen Allele Registry
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Canonical Allele Identifier:
PA093898
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007584
RCV000046985
RCV000176372
RCV000480239
RCV000587433
RCV001158873
ClinVar Variation:
7164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp1270Asn
CA254112
NM_000492.4:c.3808G>A