ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829711799
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141900
ClinVar RCV Id:
RCV000130605
RCV001857450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.His238Arg
CA003830
NM_007299.4:c.713A>G