ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312374
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000501861
RCV000727665
ClinVar Variation:
143949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Phe403Val
CA312373
NM_000060.4:c.1207T>G