ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112901
Gene: PSTPIP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004685
RCV000419297
RCV003415651
ClinVar Variation:
4435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Ala230Thr
CA116855
NM_003978.5:c.688G>A