ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829478317
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970285
ClinVar RCV Id:
RCV001245833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Arg253Trp
CA7675974
NM_003978.5:c.757C>T