ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825243356
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
307704
ClinVar RCV Id:
RCV000313716
RCV002522226
RCV002520799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002020.1:p.Thr214Met
CA10640546
NM_001002020.3:c.641C>T