ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573281450
Gene: HPS4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001960479
ClinVar Variation:
1443297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071364.4:p.Glu222Lys
CA411030114
NM_022081.5:c.664G>A