ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326976
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577087
RCV000660775
RCV001004491
RCV001009389
RCV001811323
RCV002228325
RCV002247436
RCV003474558
ClinVar Variation:
53601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser977Phe
CA326975
NM_000492.4:c.2930C>T