ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573080334
Gene: MED12L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380698.1:p.Ser1617Cys
CA354974389
NM_001393769.1:c.4850C>G