Allele Registry

Canonical Allele Identifier: PA2827060486

Gene: JAK1 HGNC NCBI

ClinVar RCV:

RCV000419919

RCV000429980

RCV000430797

RCV000440192

ClinVar Variation:

376030

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307852.1:p.Val658Phe	CA16602499 NM_001320923.2:c.1972G>T