ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580521849
Gene: AMER1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2148260
ClinVar RCV Id:
RCV003068765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689637.3:p.Thr428Ile
CA10432363
NM_152424.4:c.1283C>T