ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829678146
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003070738
RCV003157963
ClinVar Variation:
2139078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr367Asn
CA10599858
NM_007294.4:c.1100C>A