ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829520533
Gene: BPTF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004450.3:p.Arg542Gln
CA8725168
NM_004459.7:c.1625G>A