ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827467054
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1370325
ClinVar RCV Id:
RCV001870972
RCV003264157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336829.1:p.Arg491His
CA10163326
NM_001349900.2:c.1472G>A