ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510205
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439492
ClinVar RCV Id:
RCV000508215
RCV001785649
RCV001829447
RCV000588700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Lys1041Gln
CA4451379
NM_000492.4:c.3121A>C