ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072624
Gene: TFAP2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547799
ClinVar RCV Id:
RCV000660302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358995.1:p.Leu240Pro
CA362701241
NM_001372066.1:c.719T>C