ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830134332
Gene: MED12L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443728.3:p.Ser1582Cys
CA354974389
NM_053002.6:c.4745C>G