Canonical Allele Identifier: PA2827467275
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369965
ClinVar RCV Id: RCV001876912 RCV004040487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336829.1:p.Pro642Leu
CA10163175
NM_001349900.2:c.1925C>T