ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106101
Gene: MAK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000022651
RCV001003075
RCV001388421
ClinVar Variation:
29784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005897.1:p.Arg166His
CA259651
NM_005906.6:c.497G>A