ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829625911
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194362
ClinVar RCV Id:
RCV000174716
RCV000267725
RCV000625227
RCV000762391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005897.1:p.Ile547Thr
CA201139
NM_005906.6:c.1640T>C