ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658703310
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495887
ClinVar RCV Id:
RCV000590683
RCV000765924
RCV000822612
RCV001158655
RCV001580520
RCV001803865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Thr388Met
CA4450912
NM_000492.4:c.1163C>T