ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580256914
Gene: BTC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001720.1:p.Cys104Arg
CA357445333
NM_001729.4:c.310T>C