Canonical Allele Identifier: PA326378
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53174
ClinVar RCV Id: RCV000046212 RCV001158654 RCV000588868 RCV002265581 RCV001000006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Thr351Ser
CA326377
NM_000492.4:c.1052C>G
CA368978904
NM_000492.4:c.1051A>T