ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827469835
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2532470
ClinVar RCV Id:
RCV003250218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336832.1:p.Glu492Ala
CA411026788
NM_001349903.2:c.1475A>C