ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499248509
Gene: MAX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1059756
ClinVar RCV Id:
RCV001369109
RCV002329382
RCV003469609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307344.1:p.Ser75Leu
CA390031453
NM_001320415.2:c.224C>T