ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580428269
Gene: HEG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065784.1:p.Thr30Pro
CA354292176
NM_020733.2:c.88A>C