ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826931587
Gene: HPS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1903961
ClinVar RCV Id:
RCV002577331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295187.1:p.Pro650Ser
CA354924580
NM_001308258.2:c.1948C>T