ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342835
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029476
RCV000724155
RCV001004452
RCV001831607
RCV002477011
RCV003473125
ClinVar Variation:
35823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu467Pro
CA342834
NM_000492.4:c.1400T>C