ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741814492
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682994
ClinVar RCV Id:
RCV003481861
RCV003779206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro355Leu
CA4450884
NM_000492.4:c.1064C>T