Canonical Allele Identifier: PA342361
Gene: HPS4 HGNC NCBI
ClinVar RCV:
RCV000020872
ClinVar Variation:
21678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_690054.1:p.His149Arg
CA342358
NM_152841.2:c.446A>G