ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828234886
Gene: HAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001648107
RCV003984019
ClinVar Variation:
1242257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354389.1:p.Thr461Met
CA8564376
NM_001367460.1:c.1382C>T