ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827334821
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374202
ClinVar RCV Id:
RCV000415011
RCV000505377
RCV000695017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.Ala919Thr
CA16043431
NM_001330599.2:c.2755G>A