ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827470888
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1903642
ClinVar RCV Id:
RCV002573075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336833.1:p.Ala645Ser
CA10163151
NM_001349904.2:c.1933G>T