ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094592
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577169
RCV001255508
RCV001831767
ClinVar Variation:
53634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro1013Leu
CA327022
NM_000492.4:c.3038C>T