ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827271500
Gene: ELMOD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316720.1:p.Arg239Cys
CA347486609
NM_001329791.2:c.715C>T