ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327849
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577570
RCV001017832
ClinVar Variation:
54741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu999Ile
CA001944
NM_007294.4:c.2995C>A