ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA062000
Gene: MMAB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000202581
RCV001804941
ClinVar Variation:
218328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443077.1:p.His183Leu
CA278559
NM_052845.4:c.548A>T