ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645392731
Gene: HPS6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435461
ClinVar RCV Id:
RCV000501662
RCV001103503
RCV001857107
RCV004023376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079023.2:p.Thr181Ala
CA5659805
NM_024747.6:c.541A>G