ClinGen Allele Registry
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Canonical Allele Identifier:
PA916009432
Gene: MAK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152840
ClinVar RCV:
RCV000132644
RCV001341119
ClinVar Variation:
143122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005897.1:p.Arg166Cys
CA270075
NM_005906.6:c.496C>T