Allele Registry

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Canonical Allele Identifier: PA2580382007

Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047440

ClinVar RCV Id: RCV002926851

ClinVar Variation Id: 2140071

ClinVar RCV Id: RCV003052929 RCV003943722

ClinVar Variation Id: 2859302

ClinVar RCV Id: RCV003701786

ClinVar Variation Id: 2893519

ClinVar RCV Id: RCV003732866

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056968.1:p.Ser136del	CA640855399 NM_015884.4:c.396_398del CA2580100458 NM_015884.4:c.405_407del