ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827267980
Gene: EMC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316424.1:p.Leu209Val
CA4842454
NM_001329495.2:c.625C>G