ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA292765
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138681
ClinVar RCV Id:
RCV000127435
RCV000270010
RCV000950748
RCV003975127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055132.2:p.Phe136Cys
CA292764
NM_014317.5:c.407T>G