ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280902
Gene: MED13L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
994913
ClinVar RCV:
RCV001305194
ClinVar Variation:
1007935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Lys475Glu
CA386896628
NM_015335.5:c.1423A>G