ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090196
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
60540
ClinVar RCV Id:
RCV000054433
RCV000054432
RCV000651273
RCV000788090
RCV002513710
RCV004549480
RCV001836725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037466.3:p.Asp361Asn
CA144551
NM_013334.4:c.1081G>A