ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280001
Gene: MAP2K1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40747
ClinVar RCV Id:
RCV000037596
RCV000623628
RCV001811234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002746.1:p.Tyr130His
CA279999
NM_002755.4:c.388T>C