ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334820
Gene: TRPS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005920
RCV000505309
RCV001091702
RCV001212523
RCV001849257
ClinVar Variation:
5578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.Ala919Val
CA117616
NM_001330599.2:c.2756C>T