Canonical Allele Identifier: PA2830395709
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444951
ClinVar RCV Id: RCV001982666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852609.1:p.Met862Ile
CA5909701
NM_181508.1:c.2586G>A
CA379514673
NM_181508.1:c.2586G>T
CA379514675
NM_181508.1:c.2586G>C