ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645384996
Gene: BPNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363407
ClinVar RCV Id:
RCV000288038
RCV003114516
RCV004022080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060283.3:p.Ala218Ser
CA10625657
NM_017813.5:c.652G>T