ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992556
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049023
RCV000112685
RCV000120265
RCV000130437
RCV000240743
RCV000588102
ClinVar Variation:
55604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Arg731Gln
CA003676
NM_007298.3:c.2192G>A