ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697879
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865375
ClinVar RCV Id:
RCV001072777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1739Met
CA10590752
NM_007297.4:c.5215C>A