ClinGen Allele Registry
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Canonical Allele Identifier:
PA327128
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000508454
RCV001705706
RCV003480044
RCV004537229
ClinVar Variation:
53705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp110Tyr
CA327127
NM_000492.4:c.328G>T