ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830274601
Gene: MAPKAPK5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620777.1:p.Ala197Val
CA243682472
NM_139078.3:c.590C>T