ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708944
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076133
ClinVar Variation:
867444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys1748Glu
CA10591186
NM_007300.4:c.5242A>G