Canonical Allele Identifier: PA891848818
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 579240
ClinVar RCV Id: RCV000702476

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Met82Ile
CA368972263
NM_000492.4:c.246G>A
CA368972264
NM_000492.4:c.246G>C
CA368972265
NM_000492.4:c.246G>T