ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580494541
Gene: BTBD6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150374.2:p.Leu52Phe
CA391182469
NM_033271.3:c.154C>T