ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069876082
Gene: BMP2K
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942595.1:p.Thr1002Ile
CA357403670
NM_198892.2:c.3005C>T