ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148428
Gene: MANBA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081336
RCV000403534
RCV000675784
ClinVar Variation:
95319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005899.3:p.Thr701Met
CA148427
NM_005908.4:c.2102C>T