ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA292946
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003969.2:p.Pro303Leu
NM_003978.5:c.908C>T