ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827346927
Gene: ELP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317678.1:p.Asn759Asp
CA374413138
NM_001330749.2:c.2275A>G