ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334799
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438461
ClinVar RCV Id:
RCV000505363
RCV001238156
RCV002250646
RCV003883488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.Asn898Ser
CA372064367
NM_001330599.2:c.2693A>G