ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827346379
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_001317678.1:p.His372Asp
CA374423130
NM_001330749.2:c.1114C>G