ClinGen Allele Registry
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Canonical Allele Identifier:
PA093554
Gene: BTD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000051.1:p.Gln456His
NM_000060.4:c.1368A>C
NM_000060.4:c.1368A>T