ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829793041
Gene: MAPKBP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003151563
RCV004246167
ClinVar Variation:
2443171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055809.2:p.Tyr338Cys
CA7497737
NM_014994.3:c.1013A>G