ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240719
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_003631.2:p.Tyr605Cys
CA240717
NM_003640.5:c.1814A>G