ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741950730
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2739094
ClinVar RCV Id:
RCV003497445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Leu844Phe
CA386891435
NM_015335.5:c.2530C>T