ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450407
Gene: B3GLCT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425025
ClinVar RCV Id:
RCV000488352
RCV000660388
RCV003915342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919299.3:p.Val403Ile
CA6936862
NM_194318.4:c.1207G>A