ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321990
Gene: PDSS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214987
ClinVar RCV Id:
RCV000677022
RCV000765862
RCV002294075
RCV003323448
RCV003937738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065114.3:p.Val223Ile
CA321989
NM_020381.4:c.667G>A