ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829701753
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132500
RCV001076053
ClinVar Variation:
142988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.His701Tyr
CA003578
NM_007298.3:c.2101C>T