ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580393397
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699570
ClinVar RCV Id:
RCV002273427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Leu1985Val
CA386876426
NM_015335.5:c.5953C>G