Allele Registry

Canonical Allele Identifier: PA327195

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577089

RCV001009502

RCV001508225

RCV003474579

ClinVar Variation:

53747

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Val1153Glu	CA327194 NM_000492.4:c.3458T>A