ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826988508
Gene: ELP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.Arg515His
CA240882
NM_001318360.2:c.1544G>A