ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573258022
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506027
ClinVar RCV Id:
RCV002035894
ClinVar Variation Id:
2139558
ClinVar RCV Id:
RCV003052657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Met1242Leu
CA4851452
NM_014112.4:c.3724A>C
CA4851453
NM_014112.4:c.3724A>T