ClinGen Allele Registry
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Canonical Allele Identifier:
PA112918
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97810
ClinVar RCV Id:
RCV000084063
RCV000215780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Glu250Lys
CA150157
NM_003978.5:c.748G>A