ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024891
Gene: PSTPIP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001308066.1:p.Pro368Leu
NM_001321137.1:c.1103C>T