ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677714
Gene: MED13L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Ala778Val
CA386893304
NM_015335.5:c.2333C>T