ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741870073
Gene: TFAP2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2711455
ClinVar RCV Id:
RCV003545314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358995.1:p.Leu250Pro
CA362701173
NM_001372066.1:c.749T>C