ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721878
Gene: MED13L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001057568
ClinVar Variation:
852862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Met1980Lys
CA386876497
NM_015335.5:c.5939T>A