ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645509864
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Pro283Ser
CA7676051
NM_003978.5:c.847C>T