ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157524
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112170
RCV000120296
RCV000148379
RCV000162713
RCV000167791
RCV000735477
RCV001353803
RCV001811340
ClinVar Variation:
54987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1250Lys
CA002401
NM_007294.4:c.3748G>A