Allele Registry

Canonical Allele Identifier: PA2741927072

Gene: NPPA HGNC NCBI

ClinVar RCV:

RCV003857868

RCV005143571

ClinVar Variation:

2992757

3663185

HGVS (amino-acid)	Matching Registered Transcripts
NP_006163.1:p.Phe149Leu	CA338448638 NM_006172.4:c.447C>G CA338448641 NM_006172.4:c.447C>A CA338448659 NM_006172.4:c.445T>C