ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270079
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143123
ClinVar RCV Id:
RCV000132645
RCV001315049
RCV003888560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229314.1:p.Ala185Thr
CA270078
NM_001242385.2:c.553G>A