ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321990
Gene: PDSS2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065114.3:p.Val223Ile
NM_020381.4:c.667G>A