ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174821
Gene: BTBD16
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161806
ClinVar RCV Id:
RCV000149342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653188.2:p.Pro28Ser
CA174820
NM_144587.5:c.82C>T