ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828703079
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143123
ClinVar RCV Id:
RCV000132645
RCV001315049
RCV003888560
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364191.1:p.Ala151Thr
CA270078
NM_001377262.1:c.451G>A