ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403693
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000474081
RCV000729714
RCV001193705
RCV004539954
ClinVar Variation:
411125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala455Val
CA4450977
NM_000492.4:c.1364C>T