ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708259
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637812
RCV000765358
RCV001076299
RCV001186735
ClinVar Variation:
531444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His1707Tyr
CA10591407
NM_007300.4:c.5119C>T