ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645511123
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438460
ClinVar RCV Id:
RCV000505319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Asn911Tyr
CA372064369
NM_014112.4:c.2731A>T