Canonical Allele Identifier: PA645392729
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 298554
ClinVar RCV Id: RCV000402564 RCV000418178 RCV001699295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079023.2:p.Ala133Val
CA5659778
NM_024747.6:c.398C>T