ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA099207
Gene: MBTPS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29956
ClinVar RCV Id:
RCV000022848
RCV000254794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056968.1:p.Asn508Ser
CA128790
NM_015884.4:c.1523A>G