ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580563902
Gene: BMP2K
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2245605
ClinVar RCV Id:
RCV004106253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942595.1:p.Leu387Arg
CA357378591
NM_198892.2:c.1160T>G