ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829902689
Gene: ELP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374912
ClinVar RCV Id:
RCV000415524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060725.1:p.Arg462Leu
CA16043971
NM_018255.4:c.1385G>T