ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803857
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497599
ClinVar RCV Id:
RCV000594547
RCV001245034
RCV002491175
RCV001834866
RCV003994036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gly1173Ser
CA4451489
NM_000492.4:c.3517G>A