Allele Registry

Canonical Allele Identifier: PA2827060472

Gene: JAK1 HGNC NCBI

ClinVar RCV:

RCV000210558

RCV000444628

RCV001255134

ClinVar Variation:

225075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307852.1:p.Ala634Asp	CA358587 NM_001320923.2:c.1901C>A