Allele Registry

Canonical Allele Identifier: PA916048606

Gene: BTD HGNC NCBI

ClinVar Allele:

16942

ClinVar RCV:

RCV000001980

RCV002272006

RCV003230341

ClinVar Variation:

1903

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Asn469Thr	CA278014 NM_001370658.1:c.1406A>C