ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827087048
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_001308786.1:p.Ala633Asp
CA358587
NM_001321857.2:c.1898C>A