Canonical Allele Identifier: PA2573062920
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1331072
ClinVar RCV Id: RCV001812607

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Phe508Leu
CA4451016
NM_000492.4:c.1522T>C
CA164967774
NM_000492.4:c.1521_1522delinsTC
CA368984730
NM_000492.4:c.1524T>A
CA368984737
NM_000492.4:c.1524T>G