ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423934
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241276
ClinVar RCV Id:
RCV000227339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Thr759Ala
CA8400844
NM_018127.7:c.2275A>G