ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580294232
Gene: HAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004085215
ClinVar Variation:
2227991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003633.2:p.Ser128Phe
CA349285993
NM_003642.4:c.383C>T