ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829964943
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_071364.4:p.Arg473His
CA10163326
NM_022081.5:c.1418G>A