ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825582260
Gene: HCCS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116080.1:p.Arg246Cys
CA412055828
NM_001122608.3:c.736C>T