ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827095781
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376967
ClinVar RCV Id:
RCV000440225
RCV002502459
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308907.1:p.Asp185Asn
CA5446958
NM_001321978.2:c.553G>A