ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580478352
Gene: HSDL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115679.2:p.Arg306Cys
CA5191104
NM_032303.5:c.916C>T