ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057553052
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004822552
ClinVar Variation:
3491705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val956Ile
CA368987397
NM_000492.4:c.2866G>A