ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826988820
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242310
ClinVar RCV Id:
RCV000229285
RCV000798294
RCV004020905
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.Gln869Leu
CA5174492
NM_001318360.2:c.2606A>T