ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677770
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464495
ClinVar RCV Id:
RCV000532583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Asn2182Ser
CA6810336
NM_015335.5:c.6545A>G