ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478708
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376967
ClinVar RCV Id:
RCV000440225
RCV002502459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055132.2:p.Asp185Asn
CA5446958
NM_014317.5:c.553G>A