ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094309
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007636
RCV001269696
RCV001831553
ClinVar Variation:
7215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile1234Val
CA325601
NM_000492.4:c.3700A>G