ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573273710
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1423983
ClinVar RCV Id:
RCV001954946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Pro808Leu
CA398222114
NM_018127.7:c.2423C>T