ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254116
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007635
RCV000589624
RCV003230350
RCV004528090
ClinVar Variation:
7214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Thr1220Ile
CA254115
NM_000492.4:c.3659C>T