ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915971610
Gene: MAPKBP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000902677
RCV002495459
RCV003932849
ClinVar Variation:
728235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122080.1:p.Gly1350Cys
CA7498716
NM_001128608.2:c.4048G>T