ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658704082
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495918
ClinVar RCV Id:
RCV000588175
RCV001834844
RCV002497233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile980Val
CA368989049
NM_000492.4:c.2938A>G