ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829965076
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1369965
ClinVar RCV Id:
RCV001876912
RCV004040487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071364.4:p.Pro624Leu
CA10163175
NM_022081.5:c.1871C>T