ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580393357
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2066943
ClinVar RCV Id:
RCV002943667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Pro1675Leu
CA244141332
NM_015335.5:c.5024C>T