ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826988596
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572554
ClinVar RCV Id:
RCV000693963
RCV001868312
RCV002493188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.Pro598Ser
CA197536699
NM_001318360.2:c.1792C>T