ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259648
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29782
ClinVar RCV Id:
RCV000022649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229886.1:p.Asn130His
CA259647
NM_001242957.3:c.388A>C