Canonical Allele Identifier: PA2827150474
Gene: JAK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14662
ClinVar RCV Id: RCV000015769 RCV000015770 RCV000015771 RCV000015772 RCV000022627 RCV000022628 RCV000428162 RCV000420273 RCV001003804 RCV000427081 RCV001092995 RCV000763621 RCV001003803
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309123.1:p.Val617Phe
CA124183
NM_001322194.2:c.1849G>T
CA645547518
NM_001322194.2:c.1848_1849delinsCT
CA891842060
NM_001322194.2:c.1849_1851delinsTTT