ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826988485
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194633
ClinVar RCV Id:
RCV000175047
RCV001832001
RCV002478566
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.Tyr491Cys
CA240717
NM_001318360.2:c.1472A>G