ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503412
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241042
ClinVar RCV Id:
RCV000238804
RCV000418348
RCV001087088
RCV002487081
RCV004532946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Lys1171Arg
CA6810975
NM_015335.5:c.3512A>G