ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580393356
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2295045
ClinVar RCV Id:
RCV002865029
RCV003319545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Asp1669Asn
CA386881366
NM_015335.5:c.5005G>A