Allele Registry

Canonical Allele Identifier: PA278236

Gene: BTD HGNC NCBI

ClinVar Allele:

36363

ClinVar RCV:

RCV000021947

RCV000985649

RCV003415728

ClinVar Variation:

25026

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Val199Met	CA278235 NM_000060.4:c.595G>A