ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825528912
Gene: HPSE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003982087
ClinVar Variation:
3060058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092010.1:p.Lys307Arg
CA2988977
NM_001098540.3:c.920A>G