ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358588
Gene: JAK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210558
RCV000444628
RCV001255134
ClinVar Variation:
225075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002218.2:p.Ala634Asp
CA358587
NM_002227.4:c.1901C>A