ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682521
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001194368
RCV001828605
RCV002436767
ClinVar Variation:
929222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro1013Ser
CA164965144
NM_000492.4:c.3037C>T