ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826988600
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371419
ClinVar RCV Id:
RCV001864537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.His607Asp
CA374423130
NM_001318360.2:c.1819C>G