ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827376301
Gene: AMZ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222960
ClinVar RCV Id:
RCV000208565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333401.1:p.Thr174Lys
CA081544
NM_001346472.1:c.521C>A