ClinGen Allele Registry
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Canonical Allele Identifier:
PA117649
Gene: B4GALT7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5613
ClinVar RCV Id:
RCV000005965
RCV000258718
RCV000413846
RCV000779599
RCV002482832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009186.1:p.Arg270Cys
CA117648
NM_007255.3:c.808C>T