ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239135
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193594
ClinVar RCV Id:
RCV000265349
RCV000436508
RCV001589052
RCV002255311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Thr438Ala
CA239134
NM_000492.4:c.1312A>G