ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009440
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
354798
ClinVar RCV Id:
RCV000406204
RCV001317683
RCV003888839
RCV004022011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005897.1:p.Pro323Arg
CA3633589
NM_005906.6:c.968C>G