ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573229572
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_003631.2:p.His721Asp
CA374423130
NM_003640.5:c.2161C>G