ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580393363
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003142624
ClinVar Variation:
2433710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Met1732Val
CA6810638
NM_015335.5:c.5194A>G