ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326994
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577451
RCV003155058
RCV003474561
ClinVar Variation:
53611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp993Tyr
CA326993
NM_000492.4:c.2977G>T