ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503401
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431916
ClinVar RCV Id:
RCV000498424
RCV001265317
RCV001261220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Pro866Leu
CA386890866
NM_015335.5:c.2597C>T