ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959264
Gene: TFAP2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547802
ClinVar RCV Id:
RCV000660305
RCV004026051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035890.1:p.Arg250Trp
CA134048998
NM_001042425.3:c.748C>T