ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826673181
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347607
ClinVar RCV Id:
RCV002050643
RCV003164021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269831.1:p.Thr1257Met
CA4851445
NM_001282902.3:c.3770C>T