ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485863
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286562
ClinVar RCV Id:
RCV000364263
RCV001079045
RCV004543087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Leu1110Phe
CA4851504
NM_014112.4:c.3328C>T